GNPTAB

Summary

GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta, HGNC:29670) is a protein-coding gene on chromosome 12q23.2, encoding N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (Q3T906). Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus.

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.

Source: NCBI Gene 79158 — RefSeq curated summary.

At a glance

• Gene–disease (curated): GNPTAB-mucolipidosis (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 1,790 total — 209 pathogenic, 187 likely-pathogenic
• Phenotypes (HPO): 192
• MANE Select transcript: NM_024312

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29670
Approved symbol	GNPTAB
Name	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Location	12q23.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1208, MGC4170
Ensembl gene	ENSG00000111670
Ensembl biotype	protein_coding
OMIM	607840
Entrez	79158

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 11 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000299314, ENST00000392919, ENST00000549165, ENST00000549194, ENST00000549738, ENST00000549940, ENST00000550352, ENST00000550718, ENST00000552009, ENST00000552681, ENST00000647144, ENST00000917133, ENST00000917134, ENST00000917135, ENST00000917136, ENST00000953730

RefSeq mRNA: 1 — MANE Select: NM_024312 NM_024312

CCDS: CCDS9088

Canonical transcript exons

ENST00000299314 — 21 exons

Exon	Start	End
ENSE00001101296	101770996	101771157
ENSE00001101359	101786012	101786217
ENSE00001155408	101780152	101780286
ENSE00001155415	101780557	101780621
ENSE00001155433	101789938	101790057
ENSE00001265267	101745499	101747241
ENSE00001265274	101749101	101749191
ENSE00001265287	101757212	101757310
ENSE00001265305	101761127	101761346
ENSE00001265345	101796677	101796762
ENSE00001265380	101760030	101760143
ENSE00001265394	101761564	101761763
ENSE00001265404	101766091	101766294
ENSE00001265409	101768037	101768160
ENSE00001265416	101770021	101770191
ENSE00001265452	101764202	101765304
ENSE00001319970	101770406	101770585
ENSE00002380951	101830559	101830959
ENSE00003587415	101788548	101788589
ENSE00003594751	101753372	101753539
ENSE00003653576	101757572	101757657

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 97.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.7076 / max 543.1891, expressed in 1789 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132911	16.7846	1748
132912	4.1581	1469
132910	0.2583	115
132909	0.2207	76
132913	0.1746	70
206863	0.1113	44

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	97.32	gold quality
endothelial cell	CL:0000115	97.00	gold quality
sural nerve	UBERON:0015488	96.86	gold quality
cortical plate	UBERON:0005343	96.68	gold quality
parotid gland	UBERON:0001831	95.45	gold quality
urethra	UBERON:0000057	95.35	gold quality
skin of hip	UBERON:0001554	94.83	gold quality
epithelium of nasopharynx	UBERON:0001951	94.57	gold quality
nasopharynx	UBERON:0001728	94.55	gold quality
upper leg skin	UBERON:0004262	94.34	gold quality
saliva-secreting gland	UBERON:0001044	94.22	gold quality
minor salivary gland	UBERON:0001830	93.86	gold quality
rectum	UBERON:0001052	93.76	gold quality
colonic mucosa	UBERON:0000317	93.71	gold quality
palpebral conjunctiva	UBERON:0001812	93.63	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.60	gold quality
caudate nucleus	UBERON:0001873	93.45	gold quality
nucleus accumbens	UBERON:0001882	93.39	gold quality
mouth mucosa	UBERON:0003729	93.39	gold quality
anterior cingulate cortex	UBERON:0009835	93.20	gold quality
superficial temporal artery	UBERON:0001614	93.17	gold quality
cingulate cortex	UBERON:0003027	93.14	gold quality
visceral pleura	UBERON:0002401	93.12	gold quality
amygdala	UBERON:0001876	93.10	gold quality
lower lobe of lung	UBERON:0008949	93.10	gold quality
CA1 field of hippocampus	UBERON:0003881	92.97	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.96	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.79	gold quality
putamen	UBERON:0001874	92.68	gold quality
renal glomerulus	UBERON:0000074	92.64	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	91.56
E-CURD-122	yes	44.15
E-MTAB-6678	yes	31.65
E-GEOD-125970	yes	22.93
E-CURD-112	yes	15.30
E-ANND-3	yes	15.22
E-GEOD-135922	yes	7.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting GNPTAB, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4697-3P	99.89	67.09	1123

Literature-anchored findings (GeneRIF, showing 40)

• GNPTAB alpha and beta subunits are encoded by a single cDNA (PMID:16120602)
• results provide evidence that GNPTA encodes a subunit of GlcNAc-1-phosphotransferase defective in individuals with mucolipidosis II (PMID:16200072)
• 15 different mutations in GNPTAB from 18 pedigrees with Mucolipidosis II or mucolipidosis IIIA were found. (PMID:16465621)
• The results of this study confirm that Mucolipidosis (ML) II or ML III phenotype is not due to the localization of the mutations, but rather to the severity of the GNPTA mutations (PMID:16630736)
• A single mutation (c.3503_3504delTC) is the allele causing Mucolipidosis II in the Saguenay-Lac-Saint-Jean population, and its high carrier rate is most likely explained by a founder effect. (PMID:18190596)
• The GNPTAB gene was analyzed in 25 Mucolipidosis II and 15 ML III Japanese patients. (PMID:19197337)
• Fifty-one pathogenic changes in GNPTAB are presented, including 42 novel mutations causing mucolipidoses II and III alpha/beta. (PMID:19617216)
• Mutations within the GNPTAB gene are associated with Mucolipidoses. (PMID:19634183)
• The study led to the identification of 11 different mutations in GNPTAB and GNPTG genes in 13 mucolipidosis II and III patients. (PMID:19659762)
• identified 3 mutations in GNPTAB gene in subjects with stuttering (PMID:20147709)
• proteolytic processing of the gamma-subunit represents a novel mechanism to regulate GlcNAc-1-phosphotransferase activity and the subsequent sorting of lysosomal enzymes (PMID:20489197)
• Patients carrying the c.3503_3504delTC deletion in the N-acetylglucosamine-1-phosphotransferase gene are presented with a common haplotype, which implies a common origin of this mutation in the Mediterranian Region. (PMID:20880125)
• Glu1200Lys mutation in GNPTAB gene is founder mutation associated with persistent stuttering (PMID:20944643)
• By using linkage and mutational analyses, there have identified that the family members contain compound heterozygous mutations of p.R364X and c.2715+1G>A in the GNPTAB gene. (PMID:21549105)
• To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review) (PMID:22884963)
• data suggest that the oligomeric type III membrane protein PT complex requires a combinatorial sorting motif that forms a tertiary epitope to be recognized by distinct sites within the coat protein complex II machinery (PMID:23192343)
• The mutation c.2808A>G creates a new splice site in exon 14 of GNPATB gene. (PMID:23566849)
• The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II. (PMID:23733939)
• study located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X) in two patients with mucolipidosis II alpha/beta (PMID:23773965)
• A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain. (PMID:24045841)
• both missense and frameshift mutations are associated with a severe clinical phenotype causing retention of the protein in the endoplasmic reticulum and failure to cleave the alpha/beta-subunit precursor protein are associated with a severe clinical phenotype (PMID:24375680)
• Missense mutations impair retention of the catalytically active enzyme in the Golgi complex resulting in mistargeting of the mutant phosphotransferases to lysosomes, where they are degraded, or to the cell surface and release into the medium. (PMID:24550498)
• novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene. (PMID:25107912)
• SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons. (PMID:25643770)
• Persistent stuttering is associated with mutations in GNPTAB that are generally not found in mucolipidosis . (PMID:26130485)
• GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit, which is independent on cysteine 70 identified to be responsible for alpha-subunit homodimerization. (PMID:26385638)
• we described five individuals from a large consanguineous Turkish family with MLIIIalpha/beta and identified a novel homozygous missense genetic variant in the alpha subunit of GNPTAB gene in five patients (PMID:26749367)
• These findings serve to explain how GlcNAc-1-phosphotransferase recognizes a large number of proteins that lack a common structural motif. (PMID:26833567)
• GNPTAB mutations are associated with mucolipidosis II. (PMID:27180337)
• Mutations of the GNPTAB gene is associated with mucolipidosis type III. (PMID:27710913)
• GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II (PMID:28918368)
• 14 variations were found in GNPTAB, GNPTG and NAGPA genes. (PMID:29289611)
• The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture. In this article, we describe two neonatal mucolipidosis II patients mimicking rickets, and we evaluated them by clinical, metabolic and imaging findings via literature and also emphasized the difficulties in diagnosis of this rare disease. (PMID:30204966)
• Study identifies GNPTAB as a host factor for Ebola virus (EBOV) infection. This requirement is confirmed in primary cells from mucolipidosis II and mucolipidosis III patients with defective GNPTAB variants. An inhibitor of the SKI-1/S1P protease required for GNPTAB activity blocks EBOV infection, suggesting that targeting GNPTAB may be a strategy for a host-targeted antiviral therapy for EBOV. (PMID:30655525)
• Data provide an overview on 258 mutations in GNPTAB including 58 novel ones. Comprehensive functional studies of GNPTAB missense mutations did not only gain insights into the composition and function of the GlcNAc-1-phosphotransferase, but also helped to define genotype-phenotype correlations to predict the clinical outcome in patients with mucolipidosis. (PMID:30882951)
• We evaluated 51 stuttering individuals with a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. Mutation carriers achieved significantly less resolution in PSI following therapy, with PSI scores showing significantly less improvement in individuals who carry a mutation (p = 0.0157, RR = 1.75, OR = 2.92) while the group difference in DWS between carriers and non-carriers was statistically not significant. (PMID:31003007)
• These data suggest that vocalization defects in mice carrying human stuttering mutations in Gnptab derive from abnormalities in astrocytes, particularly in the corpus callosum, and provide support for hypotheses that focus on deficits in interhemispheric communication in stuttering. (PMID:31405983)
• Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta. (PMID:31579991)
• Structures of Bacterial MraY and Human GPT Provide Insights into Rational Antibiotic Design. (PMID:32199982)
• Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention. (PMID:32220096)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gnptab	ENSDARG00000030153
mus_musculus	Gnptab	ENSMUSG00000035311
rattus_norvegicus	Gnptab	ENSRNOG00000005228
drosophila_melanogaster	Gnptab	FBGN0033392
caenorhabditis_elegans		WBGENE00007340
caenorhabditis_elegans		WBGENE00014666

Protein

Protein identifiers

N-acetylglucosamine-1-phosphotransferase subunits alpha/beta — Q3T906 (reviewed: Q3T906)

Alternative names: GlcNAc-1-phosphotransferase subunits alpha/beta, Stealth protein GNPTAB, UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

All UniProt accessions (6): Q3T906, F8VQW2, H0YIE6, H0YIK3, H0YIU2, Q9BUA5

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.

Subunit / interactions. Hexamer of two alpha, two beta and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits. Interacts with LYSET; facilitates proper localization of GNPTAB.

Subcellular location. Golgi apparatus membrane Golgi apparatus membrane.

Tissue specificity. Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Post-translational modifications. The alpha- and beta-subunits are generated by a proteolytic cleavage by MBTPS1 protease at the Lys-928-Asp-929 bond.

Disease relevance. Mucolipidosis type II (MLII) [MIM:252500] Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. The disease is caused by variants affecting the gene represented in this entry. Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600] Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or intellectual disability. The disease is caused by variants affecting the gene represented in this entry. Genetic variations in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.

Domain organisation. The DMAP1-binding domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases.

Miscellaneous. Due to the low pH in the endosomal/prelysosomal compartment, the lysosomal enzyme-MPR complex dissociates and then the enzyme is delivered to the lysosome. Between 5% and 20% of newly synthesized lysosomal enzymes escape the binding to the MPR in the Golgi apparatus and are secreted. Stealth proteins are part of a protein family that is conserved from bacteria to higher eukaryotes. Family members were first identified in microbes as proteins that help pathogens to elude the host innate immune system. Microbial stealth proteins are most likely involved in the biosynthesis of exopolysaccharides. Stealth proteins are predicted to function as hexose-1-phosphoryltransferases.

Similarity. Belongs to the stealth family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q3T906-1	1	yes
Q3T906-2	2

RefSeq proteins (1): NP_077288* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000800	Notch_dom	Domain
IPR002048	EF_hand_dom	Domain
IPR010506	DMAP1-bd	Domain
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR021520	Stealth_CR2	Domain
IPR031356	Stealth_CR4	Domain
IPR031357	Stealth_CR3	Domain
IPR031358	Stealth_CR1	Domain
IPR035993	Notch-like_dom_sf	Homologous_superfamily
IPR041536	GNPTAB_reg	Domain
IPR047141	Stealth	Family

Pfam: PF00066, PF06464, PF11380, PF17101, PF17102, PF17103, PF18440

Enzyme classification (BRENDA):

• EC 2.7.8.17 — UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase (BRENDA: 11 organisms, 41 substrates, 24 inhibitors, 33 Km, 18 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
METHYL-ALPHA-D-MANNOSIDE	0.021–183	5
UDP-GLCNAC	0.021–0.2	5
UTEROFERRIN	0.022–0.065	4
CATHEPSIN D	0.018–0.025	3
DNASE I	0.03–0.06	2
MAN9GLCNAC1 OLIGOSACCHARIDE	3.3–5.7	2
METHYL ALPHA-D-MANNOPYRANOSIDE	33–48	2
NPC2	0.352–0.367	2
PRO-TRIPEPTIDYL PEPTIDASE	0.11	2
RIBONUCLEASE B	0.916–1.244	2
RNASE B	0.5–0.556	2
SOYBEAN AGGLUTININ	1	2

Catalyzed reactions (Rhea), 1 shown:

• N(4)-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(glycan)]-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = N(4)-[6-(N-acetyl-alpha-D-glucosaminyl-1-phospho)-alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(glycan)]-L-asparaginyl-[protein] + UMP + H(+) (RHEA:13581)

UniProt features (145 total): sequence variant 45, helix 28, strand 25, glycosylation site 11, binding site 10, mutagenesis site 5, turn 4, disulfide bond 4, chain 2, transmembrane region 2, splice variant 2, repeat 2, domain 2, sequence conflict 2, site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9BGF	ELECTRON MICROSCOPY	2.9
7S05	ELECTRON MICROSCOPY	3.1
7S06	ELECTRON MICROSCOPY	3.3
9BGG	ELECTRON MICROSCOPY	3.4
2N6D	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3T906-F1	72.15	0.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 928–929 (cleavage; by mbtps1)

Ligand- & substrate-binding residues (10): 467; 516; 531; 534; 1018; 1020; 1022; 1029; 449; 464

Disulfide bonds (4): 438–461, 452–468, 505–528, 519–535

Glycosylation sites (11): 83, 114, 148, 179, 250, 614, 699, 729, 829, 1009, 1129

Mutagenesis-validated functional residues (5):

Position	Phenotype
346	partially cleaved by mbtps1.
357	abolishes proteolytic cleavage by mbtps1.
925	abolishes proteolytic cleavage by mbtps1.
927	abolishes proteolytic cleavage by mbtps1.
928	abolishes proteolytic cleavage by mbtps1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 580 (showing top): GOBP_N_GLYCAN_PROCESSING, GOBP_LYSOSOMAL_TRANSPORT, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOBP_PROTEIN_TARGETING, GOBP_VACUOLAR_TRANSPORT, KEGG_LYSOSOME, GOBP_CARBOHYDRATE_PHOSPHORYLATION, SABATES_COLORECTAL_ADENOMA_SIZE_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_LYSOSOME, ONKEN_UVEAL_MELANOMA_UP

GO Biological Process (7): lysosome organization (GO:0007040), N-glycan processing to lysosome (GO:0016256), secretion of lysosomal enzymes (GO:0033299), carbohydrate phosphorylation (GO:0046835), protein secretion (GO:0009306), protein transport (GO:0015031), establishment of localization in cell (GO:0051649)

GO Molecular Function (6): UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976), calcium ion binding (GO:0005509), protein binding (GO:0005515), transferase activity (GO:0016740), transferase activity, transferring phosphorus-containing groups (GO:0016772), metal ion binding (GO:0046872)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lytic vacuole organization	1
N-glycan processing	1
protein targeting to lysosome	1
protein secretion	1
carbohydrate metabolic process	1
phosphorylation	1
protein transport	1
secretion by cell	1
establishment of protein localization to extracellular region	1
protein localization to extracellular region	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
establishment of localization	1
cellular localization	1
phosphotransferase activity, for other substituted phosphate groups	1
metal ion binding	1
binding	1
catalytic activity	1
transferase activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1342 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GNPTAB	GNPTG	Q9UJJ9	996
GNPTAB	NAGPA	Q9UK23	975
GNPTAB	PURA	Q00577	872
GNPTAB	ADK	P55263	817
GNPTAB	MDH2	P40926	797
GNPTAB	RAD51	Q06609	699
GNPTAB	FUCA2	Q9BTY2	598
GNPTAB	AP4E1	Q9UPM8	583
GNPTAB	MBTPS1	Q14703	568
GNPTAB	DMAP1	Q9NPF5	566
GNPTAB	NAGLU	P54802	498
GNPTAB	MANBA	O00462	494
GNPTAB	TG	P01266	491
GNPTAB	CNTNAP2	Q9UHC6	488
GNPTAB	ATP2C2	O75185	470

IntAct

93 interactions, top by confidence:

A	B	Type	Score
RETREG3	PLSCR1	psi-mi:“MI:0914”(association)	0.640
GNPTG	GNPTAB	psi-mi:“MI:0914”(association)	0.620
GNPTAB	GNPTG	psi-mi:“MI:0915”(physical association)	0.620
B3GALT2	GNPTAB	psi-mi:“MI:0915”(physical association)	0.620
ZNF250	GNPTAB	psi-mi:“MI:0915”(physical association)	0.560
GNPTAB	PSMA1	psi-mi:“MI:0915”(physical association)	0.560
GNPTAB	FAM90A1	psi-mi:“MI:0915”(physical association)	0.560
GNPTAB	AEN	psi-mi:“MI:0915”(physical association)	0.560
GNPTAB	STAMBPL1	psi-mi:“MI:0915”(physical association)	0.560
PSMA1	GNPTAB	psi-mi:“MI:0915”(physical association)	0.560
STAMBPL1	GNPTAB	psi-mi:“MI:0915”(physical association)	0.560
GNPTAB	ZNF250	psi-mi:“MI:0915”(physical association)	0.560
AEN	GNPTAB	psi-mi:“MI:0915”(physical association)	0.560
PICK1	ILVBL	psi-mi:“MI:0914”(association)	0.530
IGSF6	CETN3	psi-mi:“MI:0914”(association)	0.530
FAM3B	LRP5	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
B3GALT2	LTN1	psi-mi:“MI:0914”(association)	0.530

BioGRID (83): GNPTAB (Two-hybrid), GNPTAB (Two-hybrid), GNPTAB (Two-hybrid), GNPTAB (Two-hybrid), GNPTAB (Two-hybrid), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS), GNPTAB (Affinity Capture-MS)

ESM2 similar proteins: B3H5R0, B5DEL3, E2AX35, E9PVB5, F4J2C8, F4JMI5, O00237, O13682, O61608, P22815, P85831, Q09298, Q0WQD2, Q0WV13, Q10025, Q3T906, Q499E0, Q5RGJ8, Q5TEA3, Q5XV99, Q69ZN6, Q6DW74, Q6DW76, Q701R0, Q76B58, Q8GWT1, Q8GWW4, Q8GZ81, Q8RXE1, Q8RXS6, Q8W4A7, Q93ZX7, Q949Q1, Q96AE7, Q9EPZ8, Q9FH36, Q9FWA4, Q9FZ37, Q9H7T0, Q9LE59

Diamond homologs: O68215, O69851, O69853, P9WGD0, P9WGD1, Q3T906, Q4K0S9, Q50025, Q51151, Q5RGJ8, Q5YQ21, Q69ZN6, Q714U9, Q7U184, Q7X4S1, Q83U59, Q84BK9, Q84CZ9, Q84D00, Q8GPD3, Q8KSB4, Q9EVX1, Q9JWW8, Q9L1I2, Q9L1I4, D0U690, F5HID8, Q4JZ13, Q4K2S1, Q4K2U1, Q5KA65, Q69AA9, Q83YR8, Q848R7, Q84CH1, Q8GP72, Q9RGR0, E6RCE9, Q4K0R3, Q6L5Q5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
R-HSA-425366	5	15.4×	4e-03
SLC-mediated transmembrane transport	8	8.0×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1790 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	209
Likely pathogenic	187
Uncertain significance	414
Likely benign	742
Benign	54

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1012255	NM_024312.5(GNPTAB):c.2980_2983del (p.Ala994fs)	Pathogenic
1071081	NM_024312.5(GNPTAB):c.1491del (p.Gly498fs)	Pathogenic
1072768	NM_024312.5(GNPTAB):c.2657_2660del (p.Asp886fs)	Pathogenic
1072782	NM_024312.5(GNPTAB):c.2423del (p.Leu808fs)	Pathogenic
1072926	NM_024312.5(GNPTAB):c.2868_2869del (p.Met957fs)	Pathogenic
1072933	NM_024312.5(GNPTAB):c.3345del (p.Met1116fs)	Pathogenic
1073529	NM_024312.5(GNPTAB):c.3300_3301del (p.Lys1100fs)	Pathogenic
1074624	NM_024312.5(GNPTAB):c.1906del (p.Arg636fs)	Pathogenic
1075110	NM_024312.5(GNPTAB):c.2737_2738del (p.Gln913fs)	Pathogenic
1075885	NM_024312.5(GNPTAB):c.178_179del (p.Ile60fs)	Pathogenic
1252037	NM_024312.5(GNPTAB):c.3653del (p.Thr1218fs)	Pathogenic
1323026	NM_024312.5(GNPTAB):c.1831del (p.Ile611fs)	Pathogenic
1323027	NM_024312.5(GNPTAB):c.1567T>C (p.Cys523Arg)	Pathogenic
1362626	NM_024312.5(GNPTAB):c.269del (p.Leu90fs)	Pathogenic
1364183	NM_024312.5(GNPTAB):c.3100del (p.Ala1034fs)	Pathogenic
1382090	NM_024312.5(GNPTAB):c.2675del (p.Leu892fs)	Pathogenic
1385807	NM_024312.5(GNPTAB):c.2334_2338del (p.Ser778fs)	Pathogenic
1388742	NM_024312.5(GNPTAB):c.3034C>T (p.Gln1012Ter)	Pathogenic
1393484	NM_024312.5(GNPTAB):c.29_32dup (p.Thr12fs)	Pathogenic
1396985	NM_024312.5(GNPTAB):c.1186G>T (p.Glu396Ter)	Pathogenic
1399558	NM_024312.5(GNPTAB):c.2654_2655del (p.Thr885fs)	Pathogenic
1416350	NM_024312.5(GNPTAB):c.88_89del (p.Thr30fs)	Pathogenic
1424471	NM_024312.5(GNPTAB):c.2303_2306del (p.Lys768fs)	Pathogenic
1429731	NM_024312.5(GNPTAB):c.1936dup (p.Gln646fs)	Pathogenic
1431816	NM_024312.5(GNPTAB):c.1503_1521dup (p.Gly508delinsCysLeuLeuLeuTer)	Pathogenic
1437885	NM_024312.5(GNPTAB):c.1122dup (p.Arg375fs)	Pathogenic
1445251	NM_024312.5(GNPTAB):c.1292T>A (p.Leu431Ter)	Pathogenic
1451810	NM_024312.5(GNPTAB):c.1499del (p.Asn500fs)	Pathogenic
1451897	NM_024312.5(GNPTAB):c.2923del (p.Glu975fs)	Pathogenic
1452514	NM_024312.5(GNPTAB):c.2098dup (p.Ile700fs)	Pathogenic

SpliceAI

3445 predictions. Top by Δscore:

Variant	Effect	Δscore
12:101749187:CCCTC:C	acceptor_gain	1.0000
12:101749188:CCTCC:C	acceptor_gain	1.0000
12:101750085:T:A	donor_gain	1.0000
12:101753375:T:A	donor_gain	1.0000
12:101753416:T:A	donor_gain	1.0000
12:101753536:CTTC:C	acceptor_gain	1.0000
12:101753537:TTC:T	acceptor_gain	1.0000
12:101753538:TCC:T	acceptor_loss	1.0000
12:101753540:C:CC	acceptor_gain	1.0000
12:101753540:CTGA:C	acceptor_loss	1.0000
12:101753541:T:G	acceptor_loss	1.0000
12:101757308:AACC:A	acceptor_loss	1.0000
12:101757309:ACC:A	acceptor_loss	1.0000
12:101757310:CCT:C	acceptor_loss	1.0000
12:101757312:T:A	acceptor_loss	1.0000
12:101760023:CACTT:C	donor_loss	1.0000
12:101760024:ACTTA:A	donor_loss	1.0000
12:101760025:CTTA:C	donor_loss	1.0000
12:101760026:TTA:T	donor_loss	1.0000
12:101760027:TACC:T	donor_loss	1.0000
12:101760028:A:AC	donor_gain	1.0000
12:101760028:A:C	donor_loss	1.0000
12:101760028:AC:A	donor_gain	1.0000
12:101760029:C:CG	donor_gain	1.0000
12:101760029:CC:C	donor_gain	1.0000
12:101760029:CCA:C	donor_gain	1.0000
12:101760029:CCAG:C	donor_gain	1.0000
12:101760029:CCAGG:C	donor_gain	1.0000
12:101760139:AAATC:A	acceptor_gain	1.0000
12:101760140:AATC:A	acceptor_gain	1.0000

AlphaMissense

8391 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:101753471:A:G	L1168P	1.000
12:101753474:A:T	V1167D	1.000
12:101753521:A:C	N1151K	1.000
12:101753521:A:T	N1151K	1.000
12:101753527:G:C	C1149W	1.000
12:101753529:A:G	C1149R	1.000
12:101761606:G:T	P958H	1.000
12:101761675:A:G	L935P	1.000
12:101766135:C:T	C523Y	1.000
12:101766164:C:A	W513C	1.000
12:101766164:C:G	W513C	1.000
12:101766166:A:G	W513R	1.000
12:101766166:A:T	W513R	1.000
12:101768063:C:G	C461S	1.000
12:101768064:A:G	C461R	1.000
12:101768064:A:T	C461S	1.000
12:101768078:C:G	C456S	1.000
12:101768078:C:T	C456Y	1.000
12:101768079:A:G	C456R	1.000
12:101768079:A:T	C456S	1.000
12:101768107:C:A	W446C	1.000
12:101768107:C:G	W446C	1.000
12:101768109:A:G	W446R	1.000
12:101768109:A:T	W446R	1.000
12:101768119:G:C	C442W	1.000
12:101768120:C:G	C442S	1.000
12:101768121:A:G	C442R	1.000
12:101768121:A:T	C442S	1.000
12:101768132:C:G	C438S	1.000
12:101768133:A:G	C438R	1.000

dbSNP variants (sampled 300 via entrez): RS1000006366 (12:101822244 T>C), RS1000029167 (12:101783712 A>T), RS1000057659 (12:101752931 C>G), RS1000094294 (12:101796447 C>T), RS1000099987 (12:101789907 C>A,T), RS1000162259 (12:101777281 C>G), RS1000163693 (12:101766741 A>G), RS1000184705 (12:101786841 G>A), RS1000226888 (12:101808267 A>G,T), RS1000263810 (12:101814729 A>C), RS1000277945 (12:101796265 G>T), RS1000359565 (12:101831045 G>A,T), RS1000362926 (12:101745848 A>G), RS1000378632 (12:101801967 G>A), RS1000387845 (12:101825325 C>G)

Disease associations

OMIM: gene MIM:607840 | disease phenotypes: MIM:252500, MIM:252600, MIM:252900, MIM:150600, MIM:181440

GenCC curated gene-disease

Disease	Classification	Inheritance
mucolipidosis type II	Definitive	Autosomal recessive
mucolipidosis type III, alpha/beta	Definitive	Autosomal recessive
mucolipidosis	Definitive	Autosomal recessive
GNPTAB-mucolipidosis	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
GNPTAB-mucolipidosis	Definitive	AR

Mondo (7): mucolipidosis type II (MONDO:0009650), mucolipidosis type III, alpha/beta (MONDO:0018931), mucolipidosis (MONDO:0019248), GNPTAB-mucolipidosis (MONDO:0100122), mucopolysaccharidosis type 3A (MONDO:0009655), Legg-Calve-Perthes disease (MONDO:0007885), Scheuermann disease (MONDO:0008410)

Orphanet (8): Mucolipidosis type III alpha/beta (Orphanet:423461), Mucolipidosis type II (Orphanet:576), Mucolipidosis type III (Orphanet:577), Mucolipidosis (Orphanet:79212), Mucopolysaccharidosis type 3 (Orphanet:581), Sanfilippo syndrome type A (Orphanet:79269), Legg-Calvé-Perthes disease (Orphanet:2380), NON RARE IN EUROPE: Scheuermann’s disease (Orphanet:3135)

HPO phenotypes

192 total (30 of 192 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000105	Enlarged kidney
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000212	Gingival overgrowth
HP:0000243	Trigonocephaly
HP:0000252	Microcephaly
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000341	Narrow forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000369	Low-set ears
HP:0000388	Otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000484	Hyperopic astigmatism
HP:0000485	Megalocornea
HP:0000488	Retinopathy
HP:0000520	Proptosis
HP:0000546	Retinal degeneration
HP:0000586	Shallow orbits

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006143_7	Bone mineral density (total hip)	3.000000e-06
GCST010703_2	Brain morphology (MOSTest)	3.000000e-37

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007702	hip bone mineral density
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D007873	Legg-Calve-Perthes Disease	C05.116.852.175.570
D009081	Mucolipidoses	C05.116.198.371; C10.228.140.163.100.435.590; C16.320.565.189.435.590; C16.320.565.202.670; C16.320.565.595.554.590; C18.452.132.100.435.590; C18.452.648.189.435.590; C18.452.648.202.670; C18.452.648.595.554.590
D012544	Scheuermann Disease	C05.116.821.500.500; C05.116.900.800.500.500; C05.116.900.808.500
C538602	Mucolipidosis 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	2
Valproic Acid	increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
GSK-J4	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression, increases methylation	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
bisphenol S	increases methylation	1
incobotulinumtoxinA	increases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Ethanol	increases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	affects response to substance	1
Indomethacin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Polychlorinated Biphenyls	affects expression	1
Quercetin	decreases expression	1
Ribonucleotides	affects binding	1

Cellosaurus cell lines

34 cell lines: 27 finite cell line, 3 transformed cell line, 3 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_9Q85	GM00080	Finite cell line	Female
CVCL_9Q86	GM00081	Finite cell line	Male
CVCL_9Q87	GM01586	Finite cell line	Male
CVCL_9Q88	GM01589	Finite cell line	Male
CVCL_9Q89	GM01590	Finite cell line	Female
CVCL_9Q90	GM02273	Finite cell line	Male
CVCL_9Q91	GM02660	Transformed cell line	Female
CVCL_9Q92	GM02687	Transformed cell line	Male
CVCL_9Q93	GM03066	Finite cell line	Female
CVCL_9R60	GM00113	Finite cell line	Female

Clinical trials (associated diseases)

33 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04360265	PHASE3	ENROLLING_BY_INVITATION	Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA
NCT00208468	PHASE3	TERMINATED	A Randomised Multi-centre Study to Compare the Long-term Performance of the Future Hip to 3 Other Implants in Primary Total Hip Replacement
NCT00176917	PHASE2	COMPLETED	Stem Cell Transplantation for Hurler
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT06567769	PHASE1	RECRUITING	Phase 1 Study of GC1130A in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
NCT01891422	Not specified	COMPLETED	Longitudinal Studies of the Glycoproteinoses
NCT02716246	PHASE2/PHASE3	RECRUITING	Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
NCT03612869	PHASE2/PHASE3	UNKNOWN	Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)
NCT03423186	PHASE1/PHASE2	COMPLETED	A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients
NCT03811028	PHASE1/PHASE2	COMPLETED	A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients
NCT04088734	PHASE1/PHASE2	TERMINATED	Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease
NCT04201405	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Gene Therapy with Modified Autologous Hematopoietic Stem Cells for Patients with Mucopolysaccharidosis Type IIIA
NCT06181136	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)
NCT01047306	Not specified	COMPLETED	A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
NCT01873911	Not specified	COMPLETED	Neurobehavioral Phenotypes in MPS III
NCT02037880	Not specified	COMPLETED	Natural History Studies of Mucopolysaccharidosis III
NCT04918641	Not specified	UNKNOWN	Natural History Observational Study of MPS IIIa in SMC
NCT01026909	Not specified	TERMINATED	Intraarticular Corticosteroid Therapy in Perthes Disease.
NCT02040714	Not specified	ENROLLING_BY_INVITATION	Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease
NCT02087436	Not specified	COMPLETED	Taperloc Complete Microplasty vs Taperloc Complete Standard: Randomized Controlled Study on Bone Mineral Density
NCT02087449	Not specified	TERMINATED	Evaluate E1 Wear, Clinical Performance of E1 Liner in THA in Korean Patient Population
NCT02676271	Not specified	COMPLETED	The Long Term Outcome of Varus Derotational Osteotomy for Legg-Calvé-Perthes’ Disease
NCT02795494	Not specified	UNKNOWN	WOMAC Hip Score in Children and Adolescents With Perthes Disease
NCT03885960	Not specified	ACTIVE_NOT_RECRUITING	Perthes Disease in Norway
NCT05734651	Not specified	RECRUITING	PROMIS Evaluation Study
NCT05840146	Not specified	COMPLETED	Kineesiotaping for Patients With LCPD
NCT06823089	Not specified	RECRUITING	Early Feasibility Study of Cartilage Defect Repair
NCT07122323	Not specified	ENROLLING_BY_INVITATION	Robotic Arm-assisted THA Vs. Conventional THA in Legg-Calvé-Perthes Disease
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT03851367	Not specified	COMPLETED	Sling Suspension Versus Gym Balls in the Treatment of Juvenile Spinal Osteochondrosis
NCT04924556	Not specified	UNKNOWN	The Effect of Rıgıd Brace on Spinopelvic Parameters and GAP Score in Adolescents With Structural Hyperkyphosis
NCT07117448	Not specified	COMPLETED	Clinical and Radiological Correlates of Balance, Pain and Body Image in Adolescents With Scheuermann’s Kyphosis