FAM20B

Summary

FAM20B (FAM20B glycosaminoglycan xylosylkinase, HGNC:23017) is a protein-coding gene on chromosome 1q25.2, encoding Glycosaminoglycan xylosylkinase (O75063). Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains.

Enables phosphotransferase activity, alcohol group as acceptor. Predicted to be involved in proteoglycan biosynthetic process. Located in Golgi apparatus and nucleoplasm.

Source: NCBI Gene 9917 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Desbuquois dysplasia (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_014864

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23017
Approved symbol	FAM20B
Name	FAM20B glycosaminoglycan xylosylkinase
Location	1q25.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0475, GXK1
Ensembl gene	ENSG00000116199
Ensembl biotype	protein_coding
OMIM	611063
Entrez	9917

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000263733, ENST00000440702, ENST00000889611, ENST00000929138, ENST00000957692

RefSeq mRNA: 3 — MANE Select: NM_014864 NM_001324310, NM_001324311, NM_014864

CCDS: CCDS1328

Canonical transcript exons

ENST00000263733 — 8 exons

Exon	Start	End
ENSE00000790070	179054529	179054638
ENSE00000922003	179050279	179050365
ENSE00001067519	179043715	179044224
ENSE00001338868	179071913	179076567
ENSE00001338869	179066800	179066859
ENSE00001338870	179064305	179064496
ENSE00001338872	179063927	179064098
ENSE00001346787	179025894	179026098

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 94.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.1633 / max 275.0111, expressed in 1791 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6896	9.3425	1776
6895	0.9684	679
6897	0.8524	533

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	94.60	gold quality
Brodmann (1909) area 10	UBERON:0013541	93.84	gold quality
saphenous vein	UBERON:0007318	93.17	gold quality
lateral globus pallidus	UBERON:0002476	93.00	gold quality
substantia nigra pars compacta	UBERON:0001965	92.87	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.50	gold quality
adrenal tissue	UBERON:0018303	92.45	gold quality
frontal pole	UBERON:0002795	92.36	gold quality
dorsal root ganglion	UBERON:0000044	92.18	gold quality
cauda epididymis	UBERON:0004360	91.83	gold quality
trigeminal ganglion	UBERON:0001675	91.48	gold quality
pericardium	UBERON:0002407	91.18	gold quality
caput epididymis	UBERON:0004358	90.97	gold quality
blood vessel layer	UBERON:0004797	90.95	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	90.86	gold quality
corpus epididymis	UBERON:0004359	90.75	gold quality
urethra	UBERON:0000057	90.39	gold quality
popliteal artery	UBERON:0002250	90.22	gold quality
tibial artery	UBERON:0007610	90.20	gold quality
cerebellar vermis	UBERON:0004720	90.17	gold quality
islet of Langerhans	UBERON:0000006	90.03	gold quality
cortical plate	UBERON:0005343	90.01	gold quality
parietal lobe	UBERON:0001872	89.94	gold quality
superior vestibular nucleus	UBERON:0007227	89.85	gold quality
olfactory bulb	UBERON:0002264	89.84	gold quality
synovial joint	UBERON:0002217	89.82	gold quality
middle frontal gyrus	UBERON:0002702	89.65	gold quality
postcentral gyrus	UBERON:0002581	89.48	gold quality
vena cava	UBERON:0004087	89.45	gold quality
paraflocculus	UBERON:0005351	89.39	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.79
E-MTAB-6379	no	66.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

178 targeting FAM20B, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-218-5P	99.93	72.22	2103

Literature-anchored findings (GeneRIF, showing 2)

• The T allele of FAM20B (rs3766626) was associated with susceptibility to two mesiodens (PMID:31133012)
• Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. (PMID:32517548)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam20b	ENSDARG00000008573
mus_musculus	Fam20b	ENSMUSG00000033557
rattus_norvegicus	Fam20b	ENSRNOG00000004337
drosophila_melanogaster	CG3631	FBGN0038268

Paralogs (2): FAM20A (ENSG00000108950), FAM20C (ENSG00000177706)

Protein

Protein identifiers

Glycosaminoglycan xylosylkinase — O75063 (reviewed: O75063)

Alternative names: Xylose kinase

All UniProt accessions (2): O75063, X6RH03

UniProt curated annotations — full annotation on UniProt →

Function. Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O-phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT-I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Widely expressed. Strongly expressed in pancreas, spleen and fetal liver.

Similarity. Belongs to the FAM20 family.

RefSeq proteins (3): NP_001311239, NP_001311240, NP_055679* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009581	FAM20_C	Domain
IPR024869	FAM20	Family

Pfam: PF06702

Catalyzed reactions (Rhea), 1 shown:

• 3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + ATP = 3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-2-O-phosphoxylosyl)-L-seryl-[protein] + ADP + H(+) (RHEA:19461)

UniProt features (17 total): binding site 7, disulfide bond 4, topological domain 2, chain 1, glycosylation site 1, transmembrane region 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75063-F1	93.14	0.84

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): 289

Ligand- & substrate-binding residues (7): 309; 309; 107; 123; 142; 222–225; 294

Disulfide bonds (4): 196–211, 201–204, 257–331, 332–389

Glycosylation sites (1): 193

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1971475	Glycosaminoglycan-protein linkage region biosynthesis

MSigDB gene sets: 152 (showing top): MORF_MBD4, MORF_RAD21, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, MITSIADES_RESPONSE_TO_APLIDIN_DN, MORF_PSMC2, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS, MORF_ATOX1, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, AACTTT_UNKNOWN, IK2_01, TAATGTG_MIR323, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES

GO Biological Process (2): proteoglycan biosynthetic process (GO:0030166), negative regulation of proteoglycan biosynthetic process (GO:1902729)

GO Molecular Function (7): ATP binding (GO:0005524), kinase activity (GO:0016301), phosphotransferase activity, alcohol group as acceptor (GO:0016773), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (5): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycosaminoglycan metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
transferase activity, transferring phosphorus-containing groups	2
proteoglycan metabolic process	1
glycoprotein biosynthetic process	1
negative regulation of glycoprotein biosynthetic process	1
proteoglycan biosynthetic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

734 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM20B	XYLT1	Q86Y38	751
FAM20B	GASK1A	Q9UFP1	714
FAM20B	EXTL2	Q9UBQ6	702
FAM20B	B3GALT6	Q96L58	699
FAM20B	B3GAT3	O94766	688
FAM20B	B4GALT7	Q9UBV7	672
FAM20B	PXYLP1	Q8TE99	669
FAM20B	XYLT2	Q9H1B5	657
FAM20B	UXS1	Q8NBZ7	653
FAM20B	FJX1	Q86VR8	645
FAM20B	EXTL3	O43909	604
FAM20B	POMK	Q9H5K3	555
FAM20B	EXT2	Q93063	546
FAM20B	CSGALNACT2	Q8N6G5	537
FAM20B	ENAM	Q9NRM1	529

IntAct

123 interactions, top by confidence:

A	B	Type	Score
FAM20B	ASPHD2	psi-mi:“MI:0915”(physical association)	0.670
FAM20B	ASPHD2	psi-mi:“MI:0914”(association)	0.670
P2RX4	FAM20B	psi-mi:“MI:0914”(association)	0.640
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
FAM20B	DCN	psi-mi:“MI:0217”(phosphorylation reaction)	0.620
DCN	FAM20B	psi-mi:“MI:0217”(phosphorylation reaction)	0.620
FAM20B	KCNJ6	psi-mi:“MI:0915”(physical association)	0.560
FFAR2	FAM20B	psi-mi:“MI:0915”(physical association)	0.560
FAM20B	FAM209A	psi-mi:“MI:0915”(physical association)	0.560
FAM20B	GPR152	psi-mi:“MI:0915”(physical association)	0.560
BSCL2	FAM20B	psi-mi:“MI:0915”(physical association)	0.560
FAM20B	TIMMDC1	psi-mi:“MI:0915”(physical association)	0.560
FAM20B	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
FAM20B	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
SPPL2B	UQCRQ	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
GALNT6	NDUFS4	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
CENPH	PSMD11	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530

BioGRID (103): FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), ASPHD2 (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS), FAM20B (Affinity Capture-MS)

ESM2 similar proteins: A2XFP3, A2ZI32, A4VCL2, B4JW99, B4LCX4, B8AIZ4, F4J2C8, O22775, O75063, O75072, P14599, P45895, P54360, P86275, Q0KHV6, Q10MQ0, Q2QXP0, Q2TBE6, Q5K027, Q5MJS3, Q5RH51, Q5SP46, Q5XIL2, Q5ZEQ8, Q5ZIK0, Q6DCQ8, Q6GX83, Q6H765, Q6PE18, Q701R1, Q701R2, Q86BJ3, Q8CBQ5, Q8CID3, Q8IXL6, Q8R507, Q8RXE1, Q8T5G8, Q8VCS3, Q93ZX7

Diamond homologs: A4VCL2, O75063, Q5MJS3, Q5RH51, Q8CID3, Q8IXL6, Q8VCS3, Q95T10, Q96MK3, Q9XTW2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 114 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
Glycosaminoglycan-protein linkage region biosynthesis	5	25.9×	3e-04
Glycosaminoglycan metabolism	6	17.3×	3e-04
R-HSA-425366	5	11.9×	3e-03
Metabolism of carbohydrates and carbohydrate derivatives	6	9.5×	2e-03
SLC-mediated transmembrane transport	8	6.2×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	5	35.5×	2e-04
intracellular zinc ion homeostasis	5	24.3×	7e-04
amino acid transport	5	15.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2402 predictions. Top by Δscore:

Variant	Effect	Δscore
1:179044222:GCG:G	donor_gain	1.0000
1:179054514:A:AG	acceptor_gain	1.0000
1:179057813:GGGC:G	donor_gain	1.0000
1:179064302:CAGG:C	acceptor_loss	1.0000
1:179064303:AGGTG:A	acceptor_gain	1.0000
1:179064304:GGTGG:G	acceptor_gain	1.0000
1:179064495:AGGTG:A	donor_loss	1.0000
1:179064497:GT:G	donor_loss	1.0000
1:179072113:TGG:T	donor_gain	1.0000
1:179072115:G:GT	donor_gain	1.0000
1:179072123:G:GT	donor_gain	1.0000
1:179026096:CAGGT:C	donor_loss	0.9900
1:179026097:AGGTG:A	donor_loss	0.9900
1:179026100:T:A	donor_loss	0.9900
1:179044223:CGGT:C	donor_loss	0.9900
1:179044224:GGTAA:G	donor_loss	0.9900
1:179044225:G:GG	donor_gain	0.9900
1:179044225:GT:G	donor_loss	0.9900
1:179044226:T:G	donor_loss	0.9900
1:179050273:TTGCA:T	acceptor_loss	0.9900
1:179050274:TGCA:T	acceptor_loss	0.9900
1:179050275:GCA:G	acceptor_loss	0.9900
1:179050276:CAG:C	acceptor_loss	0.9900
1:179050277:A:AC	acceptor_loss	0.9900
1:179050345:AGC:A	donor_gain	0.9900
1:179050362:ACAG:A	donor_loss	0.9900
1:179050364:AGGT:A	donor_loss	0.9900
1:179050365:GG:G	donor_loss	0.9900
1:179050367:T:A	donor_loss	0.9900
1:179051282:GCCA:G	donor_gain	0.9900

AlphaMissense

2674 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:179044160:G:A	G105R	1.000
1:179044160:G:C	G105R	1.000
1:179044161:G:A	G105E	1.000
1:179044168:G:C	Q107H	1.000
1:179044168:G:T	Q107H	1.000
1:179044172:A:G	K109E	1.000
1:179044173:A:T	K109I	1.000
1:179044174:A:C	K109N	1.000
1:179044174:A:T	K109N	1.000
1:179044214:A:G	K123E	1.000
1:179044216:A:C	K123N	1.000
1:179044216:A:T	K123N	1.000
1:179050326:A:T	D142V	1.000
1:179050329:G:C	R143T	1.000
1:179063940:T:G	C196W	1.000
1:179063947:G:T	G199W	1.000
1:179063948:G:A	G199E	1.000
1:179063948:G:T	G199V	1.000
1:179063953:T:A	C201S	1.000
1:179063953:T:C	C201R	1.000
1:179063954:G:A	C201Y	1.000
1:179063954:G:C	C201S	1.000
1:179063954:G:T	C201F	1.000
1:179063955:C:G	C201W	1.000
1:179063962:T:A	C204S	1.000
1:179063962:T:C	C204R	1.000
1:179063963:G:A	C204Y	1.000
1:179063963:G:C	C204S	1.000
1:179063963:G:T	C204F	1.000
1:179063964:C:G	C204W	1.000

dbSNP variants (sampled 300 via entrez): RS1000005619 (1:179035749 A>G), RS1000094800 (1:179047724 A>T), RS1000102718 (1:179067556 A>G), RS1000144334 (1:179015634 T>C), RS1000146420 (1:179057906 T>C), RS1000191186 (1:179015526 C>T), RS1000257251 (1:179051496 G>A,T), RS1000290524 (1:179055393 C>A,T), RS1000333621 (1:179042281 C>T), RS1000406585 (1:179045039 C>T), RS1000442365 (1:179048537 C>T), RS1000497440 (1:179057587 C>G), RS1000537545 (1:179052824 T>G), RS1000538881 (1:179074847 C>T), RS1000596112 (1:179075084 C>T)

Disease associations

OMIM: gene MIM:611063 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Desbuquois dysplasia	Moderate	Autosomal recessive
congenital disorder of glycosylation	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	AR

Mondo (2): congenital disorder of glycosylation (MONDO:0015286), Desbuquois dysplasia (MONDO:0015426)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011426_3	Systemic lupus erythematosus	1.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
abrine	decreases expression	1
Bortezomib	decreases expression	1
Temozolomide	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Tretinoin	decreases expression	1
Tunicamycin	decreases expression	1
Valproic Acid	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	decreases methylation	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1RU	Abcam HeLa FAM20B KO	Cancer cell line	Female
CVCL_DX00	HAP1 FAM20B (-) 2	Cancer cell line	Male
CVCL_DX33	HAP1 FAM20B (-) IDS (-) 1	Cancer cell line	Male
CVCL_DX34	HAP1 FAM20B (-) IDS (-) 2	Cancer cell line	Male
CVCL_XN67	HAP1 FAM20B (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07572825	PHASE1	NOT_YET_RECRUITING	Assessing the Safety and Tolerability of NMN in DHDDS-CDG
NCT02089789	Not specified	RECRUITING	Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT02955264	Not specified	COMPLETED	Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
NCT03250728	Not specified	COMPLETED	Role of the Endothelium in Stroke-like Episode Among CDG Patients
NCT03560570	Not specified	COMPLETED	Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT04198987	Not specified	COMPLETED	Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
NCT04199000	Not specified	RECRUITING	Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT04201067	Not specified	COMPLETED	Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism