MMAB |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MMAB (HGNC:19331) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- metabolism of cobalamin associated B
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- cblB, CFAP23
- %HI
- 67.13(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.88(Read more about gnomAD LOEUF score)
- Cytoband
- 12q24.11
- Genomic Coordinates
-
GRCh37/hg19: chr12:109991520-110011309 NCBI Ensembl UCSC GRCh38/hg38: chr12:109553715-109573504 NCBI Ensembl UCSC - MANE Select Transcript
- NM_052845.4 ENST00000545712.7 (Read more about MANE Select)
- Function
- Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion (PubMed:12514191). Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP- binding to MMAB and gated by MMAA (Probable). {ECO:0000269|PubMed:12514191, ECO:0000305|PubMed:28497574}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4186
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/30/2017
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- methylmalonic aciduria, cblB type Monarch
HI Evidence Comments:
Variants in MMAB have been reported in association with Methylmalonic aciduria, cblB complementation type, an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)