MMADHC |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MMADHC (HGNC:25221) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- metabolism of cobalamin associated D
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C2orf25
- Alias symbols
- CL25022, cblD
- %HI
- 11.87(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.99(Read more about gnomAD LOEUF score)
- Cytoband
- 2q23.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:150426151-150444289 NCBI Ensembl UCSC GRCh38/hg38: chr2:149569637-149587775 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015702.3 ENST00000303319.10 (Read more about MANE Select)
- Function
- Involved in cobalamin metabolism and trafficking (PubMed:18385497, PubMed:23415655, PubMed:24722857, PubMed:26364851). Plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) (PubMed:18385497, PubMed:23415655, PubMed:24722857). Promotes oxidation of cob(II)alamin bound to MMACHC (PubMed:26364851). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMA... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20664
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
07/21/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- methylmalonic aciduria and homocystinuria type cblD Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
-
PUBMED: 22085900
Paper describes a large duplication involving MBD5 and other genes. MMADHC is at the boundary but authors do not discuss its involvement in the phenotype.
TS Evidence Comments:
No focal duplications of MMADHC described. Larger overlapping duplications including MMADHC do not implicate MMADHC in clinical phenotypes.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)