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    MMADHC metabolism of cobalamin associated D [ Homo sapiens (human) ]

    Gene ID: 27249, updated on 7-Dec-2018

    Summary

    Official Symbol
    MMADHCprovided by HGNC
    Official Full Name
    metabolism of cobalamin associated Dprovided by HGNC
    Primary source
    HGNC:HGNC:25221
    See related
    Ensembl:ENSG00000168288 MIM:611935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    cblD; C2orf25; CL25022
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 49.1), esophagus (RPKM 43.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See MMADHC in Genome Data Viewer
    Location:
    2q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (149569633..149587816, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (150426147..150444330, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 8 member A3, pseudogene Neighboring gene LY6/PLAUR domain containing 6 Neighboring gene ribosomal protein L17 pseudogene 13 Neighboring gene uncharacterized LOC101929231 Neighboring gene RNA, U6 small nuclear 601, pseudogene Neighboring gene uncharacterized LOC105373680

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC; C2orf25) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
      Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
    • Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD, organism-specific biosystem (from REACTOME)
      Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD, organism-specific biosystemDefects in MMADHC cause methylmalonic aciduria and homocystinuria type cblD (MMAHCD; MIM:277410), a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalam...
    • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
      Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
    • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
      Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of metabolism, organism-specific biosystem (from REACTOME)
      Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cobalamin metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cobalamin metabolic process TAS
    Traceable Author Statement
    more info
     
    coenzyme biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    methylmalonic aciduria and homocystinuria type D protein, mitochondrial
    Names
    methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    protein C2orf25, mitochondrial

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009189.1 RefSeqGene

      Range
      5001..23184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015702.3NP_056517.1  methylmalonic aciduria and homocystinuria type D protein, mitochondrial

      See identical proteins and their annotated locations for NP_056517.1

      Status: REVIEWED

      Source sequence(s)
      BC000932, BG610637, BM456421, BU570084
      Consensus CDS
      CCDS2189.1
      UniProtKB/Swiss-Prot
      Q9H3L0
      Related
      ENSP00000301920.5, ENST00000303319.9
      Conserved Domains (1) summary
      pfam10229
      Location:24293
      MMADHC; Methylmalonic aciduria and homocystinuria type D protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      149569633..149587816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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