ACTMAP

Summary

ACTMAP (actin maturation protease, HGNC:24758) is a protein-coding gene on chromosome 19q13.2, encoding Actin maturation protease (Q5BKX5). Actin maturation protease that specifically mediates the cleavage of immature acetylated N-terminal actin, thereby contributing to actin maturation.

Enables cysteine-type aminopeptidase activity and initiator methionyl aminopeptidase activity. Involved in protein processing. Predicted to be located in cytoplasm.

Source: NCBI Gene 284325 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_198476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24758
Approved symbol	ACTMAP
Name	actin maturation protease
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ41131
Ensembl gene	ENSG00000188493
Ensembl biotype	protein_coding
OMIM	620093
Entrez	284325

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000378313, ENST00000469741, ENST00000470681, ENST00000594163, ENST00000596809, ENST00000596940, ENST00000597507, ENST00000598352, ENST00000598485, ENST00000600139, ENST00000862156, ENST00000862157, ENST00000862158

RefSeq mRNA: 6 — MANE Select: NM_198476 NM_001353805, NM_001353806, NM_001353807, NM_001353808, NM_001353809, NM_198476

CCDS: CCDS12564

Canonical transcript exons

ENST00000378313 — 6 exons

Exon	Start	End
ENSE00001510447	40743905	40743975
ENSE00001510449	40749481	40750477
ENSE00003053599	40744067	40744196
ENSE00003590458	40745130	40745198
ENSE00003635044	40740861	40742770
ENSE00003667061	40744559	40744683

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 91.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7499 / max 148.7888, expressed in 1800 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181007	16.1699	1796
181009	0.4675	206
181008	0.1124	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	91.51	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.22	gold quality
mucosa of transverse colon	UBERON:0004991	85.99	gold quality
buccal mucosa cell	CL:0002336	84.47	gold quality
right lobe of liver	UBERON:0001114	84.33	gold quality
lower lobe of lung	UBERON:0008949	83.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.76	gold quality
oocyte	CL:0000023	83.71	gold quality
right adrenal gland	UBERON:0001233	83.35	gold quality
jejunal mucosa	UBERON:0000399	83.14	gold quality
right adrenal gland cortex	UBERON:0035827	83.00	gold quality
granulocyte	CL:0000094	82.56	gold quality
duodenum	UBERON:0002114	82.53	gold quality
vastus lateralis	UBERON:0001379	82.16	silver quality
small intestine Peyer’s patch	UBERON:0003454	82.07	gold quality
left adrenal gland	UBERON:0001234	81.95	gold quality
left adrenal gland cortex	UBERON:0035825	81.77	gold quality
gastrocnemius	UBERON:0001388	81.73	gold quality
small intestine	UBERON:0002108	81.70	gold quality
apex of heart	UBERON:0002098	81.57	gold quality
adrenal cortex	UBERON:0001235	81.56	gold quality
quadriceps femoris	UBERON:0001377	81.50	silver quality
stromal cell of endometrium	CL:0002255	81.31	gold quality
muscle of leg	UBERON:0001383	81.21	gold quality
right lung	UBERON:0002167	80.94	gold quality
upper lobe of lung	UBERON:0008948	80.75	gold quality
muscle organ	UBERON:0001630	80.73	gold quality
transverse colon	UBERON:0001157	80.62	gold quality
upper lobe of left lung	UBERON:0008952	80.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting ACTMAP, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	actmap	ENSDARG00000039513
mus_musculus	Actmap	ENSMUSG00000078786
rattus_norvegicus	Actmap	ENSRNOG00000037715
drosophila_melanogaster	CG33108	FBGN0053108
caenorhabditis_elegans	K07A1.3	WBGENE00010610

Protein

Protein identifiers

Actin maturation protease — Q5BKX5 (reviewed: Q5BKX5)

Alternative names: Actin aminopeptidase ACTMAP

All UniProt accessions (7): M0QXR4, M0R0A6, M0R2U9, M0R322, M0R368, Q5BKX5, Q6ZWG5

UniProt curated annotations — full annotation on UniProt →

Function. Actin maturation protease that specifically mediates the cleavage of immature acetylated N-terminal actin, thereby contributing to actin maturation. Cleaves N-terminal acetylated methionine of immature cytoplasmic beta- and gamma-actins ACTB and ACTG1 after translation. Cleaves N-terminal acetylated cysteine of muscle alpha-actins ACTA1, ACTC1 and ACTA2 after canonical removal of N-terminal methionine.

Subunit / interactions. Interacts (via N-terminus) with PFN2 isoforms IIa and IIb; the interactions may facilitate efficient cleavage of the acetylated N-terminus of immature actin. Interacts with PFN1.

Subcellular location. Cytoplasm.

Domain organisation. The N-terminal proline-rich disordered region contributes to the interaction with PFN2.

Similarity. Belongs to the ACTMAP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5BKX5-1	1	yes
Q5BKX5-2	2
Q5BKX5-3	3

RefSeq proteins (6): NP_001340734, NP_001340735, NP_001340736, NP_001340737, NP_001340738, NP_940878* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040043	ACTMAP	Family

Pfam: PF21646

Catalyzed reactions (Rhea), 4 shown:

• N-terminal N(alpha)-acetyl-L-methionyl-L-aspartyl-[protein] + H2O = N-terminal L-aspartyl-[protein] + N-acetyl-L-methionine (RHEA:74571)
• N-terminal N(alpha)-acetyl-L-methionyl-L-glutamyl-[protein] + H2O = N-terminal L-glutamyl-[protein] + N-acetyl-L-methionine (RHEA:74575)
• N-terminal N(alpha)-acetyl-L-cysteinyl-L-aspartyl-[protein] + H2O = N-terminal L-aspartyl-[protein] + N-acetyl-L-cysteine (RHEA:74579)
• N-terminal N(alpha)-acetyl-L-cysteinyl-L-glutamyl-[protein] + H2O = N-terminal L-glutamyl-[protein] + N-acetyl-L-cysteine (RHEA:74583)

UniProt features (12 total): compositionally biased region 3, region of interest 2, splice variant 2, chain 1, mutagenesis site 1, sequence conflict 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BKX5-F1	83.63	0.60

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): 132

Post-translational modifications (1): 316

Mutagenesis-validated functional residues (1):

Position	Phenotype
132	catalytically inactive, disrupts n-terminal cleavage of immature actin.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 90 (showing top): GOBP_PROTEIN_MATURATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, GOBP_PROTEOLYSIS, GARY_CD5_TARGETS_UP, GOMF_PEPTIDASE_ACTIVITY, GOMF_AMINOPEPTIDASE_ACTIVITY, GOMF_EXOPEPTIDASE_ACTIVITY, TCANNTGAY_SREBP1_01, GOBP_PROTEIN_PROCESSING, NFY_Q6_01, GOMF_CYSTEINE_TYPE_EXOPEPTIDASE_ACTIVITY, CEBPZ_TARGET_GENES

GO Biological Process (2): protein processing (GO:0016485), proteolysis (GO:0006508)

GO Molecular Function (5): initiator methionyl aminopeptidase activity (GO:0004239), cysteine-type aminopeptidase activity (GO:0070005), aminopeptidase activity (GO:0004177), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
aminopeptidase activity	2
proteolysis	1
protein maturation	1
protein metabolic process	1
cysteine-type exopeptidase activity	1
exopeptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

926 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACTMAP	TMEM41B	Q5BJD5	592
ACTMAP	USPL1	Q5W0Q7	506
ACTMAP	SPRED3	Q2MJR0	489
ACTMAP	MPHOSPH9	Q99550	489
ACTMAP	KCTD14	Q9BQ13	486
ACTMAP	C19orf47	Q8N9M1	480
ACTMAP	ITPKC	Q96DU7	479
ACTMAP	THOC2	Q8NI27	471
ACTMAP	ATXN10	Q9UBB4	465
ACTMAP	SMIM3	Q9BZL3	464
ACTMAP	DUSP22	Q9NRW4	450
ACTMAP	CLCN7	P51798	448
ACTMAP	ZNF414	Q96IQ9	446
ACTMAP	VPS16	Q9H269	444
ACTMAP	ZNF780A	O75290	431

IntAct

3 interactions, top by confidence:

A	B	Type	Score
ACTMAP	XIAP	psi-mi:“MI:0914”(association)	0.350

BioGRID (82): EHD4 (Affinity Capture-MS), EHD1 (Affinity Capture-MS), XIAP (Affinity Capture-MS), CALML3 (Affinity Capture-MS), EHD1 (Affinity Capture-MS), EHD4 (Affinity Capture-MS), XIAP (Affinity Capture-MS), C19orf54 (Two-hybrid), C19orf54 (Two-hybrid), C19orf54 (Two-hybrid), C19orf54 (Two-hybrid), C19orf54 (Two-hybrid), C19orf54 (Two-hybrid), C19orf54 (Two-hybrid), C19orf54 (Two-hybrid)

ESM2 similar proteins: A1L515, A4D2P6, A6QQD2, A8VU90, E1BDF2, O75808, O88995, P0CG25, P22083, Q0IIA6, Q2TA57, Q3B7L1, Q3MIP1, Q3U5Q7, Q3UR50, Q3UR97, Q3UV16, Q400G9, Q5BKX5, Q5EBM0, Q5GH72, Q5SZI1, Q5TM19, Q5U4P2, Q62994, Q659K9, Q6PRD1, Q7Z736, Q861W0, Q86UR1, Q8BNN1, Q8C0R7, Q8CG70, Q8IUW3, Q8IVL6, Q8N398, Q8NAG6, Q8NCW0, Q8R2H1, Q8VCE9

Diamond homologs: A6QQD2, B0BM95, B0V3H4, J3QPC3, Q5BKX5, Q9VCE8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1074 predictions. Top by Δscore:

Variant	Effect	Δscore
19:40742768:CCC:C	acceptor_gain	1.0000
19:40742769:CC:C	acceptor_gain	1.0000
19:40742769:CCC:C	acceptor_gain	1.0000
19:40742770:CC:C	acceptor_gain	1.0000
19:40742771:C:CC	acceptor_gain	1.0000
19:40742771:C:CG	acceptor_loss	1.0000
19:40742772:T:A	acceptor_loss	1.0000
19:40743986:C:CT	acceptor_gain	1.0000
19:40743988:T:C	acceptor_gain	1.0000
19:40743988:T:TC	acceptor_gain	1.0000
19:40745128:A:AC	donor_gain	1.0000
19:40745129:C:CC	donor_gain	1.0000
19:40749479:A:AC	donor_gain	1.0000
19:40749480:C:CC	donor_gain	1.0000
19:40749484:T:TA	donor_gain	1.0000
19:40742766:GACCC:G	acceptor_gain	0.9900
19:40742767:ACCC:A	acceptor_gain	0.9900
19:40742768:CCCC:C	acceptor_gain	0.9900
19:40742771:C:T	acceptor_gain	0.9900
19:40743900:CCCA:C	donor_loss	0.9900
19:40743901:CCACC:C	donor_loss	0.9900
19:40743902:CA:C	donor_loss	0.9900
19:40743904:CCT:C	donor_loss	0.9900
19:40743907:GCAC:G	donor_loss	0.9900
19:40743908:CACT:C	donor_loss	0.9900
19:40743909:AC:A	donor_loss	0.9900
19:40743910:CTCA:C	donor_loss	0.9900
19:40743911:T:TT	donor_loss	0.9900
19:40743912:C:CC	donor_loss	0.9900
19:40743913:A:AC	donor_gain	0.9900

AlphaMissense

2223 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:40745179:A:G	W115R	0.997
19:40745179:A:T	W115R	0.997
19:40743920:A:G	W235R	0.996
19:40743920:A:T	W235R	0.996
19:40742591:A:G	W300R	0.995
19:40742591:A:T	W300R	0.995
19:40743918:C:A	W235C	0.995
19:40743918:C:G	W235C	0.995
19:40742565:G:C	S308R	0.994
19:40742565:G:T	S308R	0.994
19:40742567:T:G	S308R	0.994
19:40743949:G:T	P225Q	0.994
19:40743923:G:C	H234D	0.993
19:40744563:G:C	F171L	0.993
19:40744563:G:T	F171L	0.993
19:40744564:A:G	F171S	0.993
19:40744565:A:G	F171L	0.993
19:40742562:G:C	N309K	0.992
19:40742562:G:T	N309K	0.992
19:40743909:A:C	S238R	0.990
19:40743909:A:T	S238R	0.990
19:40743911:T:G	S238R	0.990
19:40743917:C:G	A236P	0.990
19:40745141:T:A	Q127H	0.990
19:40745141:T:G	Q127H	0.990
19:40742589:C:A	W300C	0.989
19:40742589:C:G	W300C	0.989
19:40742619:C:A	K290N	0.989
19:40742619:C:G	K290N	0.989
19:40743934:C:A	G230V	0.989

dbSNP variants (sampled 300 via entrez): RS1000249370 (19:40747915 A>T), RS1000377746 (19:40749653 G>C,T), RS1001153037 (19:40744501 A>C,G), RS1001533596 (19:40744142 A>G), RS1001582179 (19:40743357 C>T), RS1001702508 (19:40748971 C>G,T), RS1001741898 (19:40748664 G>A), RS1001778216 (19:40741337 G>A,C,T), RS1001826775 (19:40746744 A>G), RS1001917398 (19:40744357 C>T), RS1002041287 (19:40750171 C>G,T), RS1002044508 (19:40745451 G>A), RS1002158819 (19:40745752 A>C,G), RS1002561671 (19:40742926 G>C), RS1003130025 (19:40747621 G>A)

Disease associations

OMIM: gene MIM:620093 | disease phenotypes: MIM:123100, MIM:248600, MIM:614976, MIM:105650

GenCC curated gene-disease

Mondo (4): TWIST1-related craniosynostosis (MONDO:0007399), maple syrup urine disease (MONDO:0009563), MEGF8-related Carpenter syndrome (MONDO:0013998), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (4): Diamond-Blackfan anemia (Orphanet:124), Maple syrup urine disease (Orphanet:511), OBSOLETE: Isolated oxycephaly (Orphanet:63440), Carpenter syndrome (Orphanet:65759)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009921_7	Carotid intima media thickness (mean)	1.000000e-10

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
D008375	Maple Syrup Urine Disease	C10.228.140.163.100.520; C16.320.565.100.608; C16.320.565.189.520; C18.452.132.100.520; C18.452.648.100.608; C18.452.648.189.520

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation	2
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
mancozeb	decreases expression	1
polyhexamethyleneguanidine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases phosphorylation	1
Carbamazepine	affects expression	1
Diazinon	increases methylation	1
Estradiol	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Thimerosal	decreases expression	1
Urethane	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05474924	PHASE4	UNKNOWN	The Role of Budesonide Intrapolyp Injection in CRSwNP
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT02997020	Not specified	ACTIVE_NOT_RECRUITING	Ivacaftor for Acquired CFTR Dysfunction in Chronic Rhinosinusitis (EDSPD Protocol)
NCT03379701	Not specified	COMPLETED	Applications of Nanotechnology and Chemical Sensors for the Detection and Identification of Chronic Sinusitis Subtypes by Respiratory Samples
NCT04868695	Not specified	RECRUITING	Subjective and Objective Outcome of ESS in CRSwNP
NCT01529060	PHASE2/PHASE3	COMPLETED	Phenylbutyrate Therapy for Maple Syrup Urine Disease
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04248062	Not specified	COMPLETED	Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
NCT04602325	Not specified	RECRUITING	Systemic Biomarkers of Brain Injury From Hyperammonemia
NCT04828863	Not specified	COMPLETED	Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
NCT05051657	Not specified	COMPLETED	Evaluation of the Express Plus Range
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT06298292	Not specified	NOT_YET_RECRUITING	Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
NCT06581991	Not specified	NOT_YET_RECRUITING	Liquid Valine and Isoleucine in Maple Syrup Urine Disease
NCT06664840	Not specified	NOT_YET_RECRUITING	MyRareDiet A Novel Diet Tracking Tool
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study