Description

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:HGNC Symbol;Acc:HGNC:24525]

Synonyms

cblC, DKFZP564I122

Location

Chromosome 1: 45,500,053-45,513,382 forward strand.

GRCh38:CM000663.2

About this gene

This gene has 3 transcripts (splice variants), 68 orthologues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MMACHC-001ENST000004010615296282aaENSP00000383840
 
Protein coding
CCDS41324Q9Y4U1 NM_015506
NP_056321
TSL:2GENCODE basicAPPRIS P1
MMACHC-201ENST000006161351510225aaENSP00000478859
 
Protein coding
-A0A0C4DGU2 -TSL:2GENCODE basic
MMACHC-004ENST00000477188607No protein-
 
Processed transcript
---TSL:3

Gene-based displays