• 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)