Gene: MMADHC ENSG00000168288

Description

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc:25221]

Gene Synonyms

C2orf25, CL25022, cblD

Location

GRCh37:CM000664.1

About this gene

This gene has 4 transcripts (splice variants) and is associated with 6 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000428879.1	MMADHC-001	1726	296aa	ENSP00000389060.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2189	Q9H3L0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000422782.2	MMADHC-004	1462	330aa	ENSP00000408331.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8WEC0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000303319.5	MMADHC-006	1436	296aa	ENSP00000301920.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2189	Q9H3L0	NM_015702.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000460311.1	MMADHC-005	324	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary