Human Gene MMADHC (ENST00000303319.10) from GENCODE V44
Description: Homo sapiens metabolism of cobalamin associated D (MMADHC), mRNA. (from RefSeq NM_015702) RefSeq Summary (NM_015702): This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]. Gencode Transcript: ENST00000303319.10 Gencode Gene: ENSG00000168288.13 Transcript (Including UTRs) Position: hg38 chr2:149,569,637-149,587,775 Size: 18,139 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr2:149,569,974-149,587,097 Size: 17,124 Coding Exon Count: 7
ID:MMAD_HUMAN DESCRIPTION: RecName: Full=Methylmalonic aciduria and homocystinuria type D protein, mitochondrial; Flags: Precursor; FUNCTION: Involved in cobalamin metabolism. SUBCELLULAR LOCATION: Mitochondrion (Potential). TISSUE SPECIFICITY: Widely expressed at high levels. DISEASE: Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]. A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). SEQUENCE CAUTION: Sequence=AAG43124.1; Type=Frameshift; Positions=171, 178, 185, 188, 200; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MMADHC";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF10229 - Methylmalonic aciduria and homocystinuria type D protein
ModBase Predicted Comparative 3D Structure on Q9H3L0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q9H3L0 (Reactome details) participates in the following event(s):
R-HSA-3149494 MMACHC:cob(II)alamin binds MMADHC R-HSA-196741 Cobalamin (Cbl, vitamin B12) transport and metabolism R-HSA-196849 Metabolism of water-soluble vitamins and cofactors R-HSA-3359473 Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD R-HSA-196854 Metabolism of vitamins and cofactors R-HSA-3296469 Defects in cobalamin (B12) metabolism R-HSA-1430728 Metabolism R-HSA-3296482 Defects in vitamin and cofactor metabolism R-HSA-5668914 Diseases of metabolism R-HSA-1643685 Disease