KEGG   Homo sapiens (human): 27249Help
Entry
27249             CDS       T01001                                 

Gene name
MMADHC, C2orf25, CL25022, cblD
Definition
(RefSeq) metabolism of cobalamin associated D
Organism
hsa  Homo sapiens (human)
Disease
H00174  Methylmalonic aciduria
H02221  Methylmalonic aciduria and homocystinuria
SSDB OrthologParalogGFIT
Motif
Pfam: MMADHC
Motif
Other DBs
NCBI-GeneID: 27249
NCBI-ProteinID: NP_056517
OMIM: 611935
HGNC: 25221
Ensembl: ENSG00000168288
Vega: OTTHUMG00000155558
Pharos: Q9H3L0(Tbio)
UniProt: Q9H3L0
Structure
PDB: 

Position
2q23.2
AA seq 296 aa AA seqDB search
MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDE
TMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYV
NEFQGNDAPVEQEINSAETYFESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQ
KTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNN
TLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN
NT seq 891 nt NT seq  +upstreamnt  +downstreamnt
atggccaatgtgctttgtaacagagccagactggtttcctatctcccaggattttgctct
ttagttaaaagggttgtcaatcccaaagccttttcgactgcaggatcatcaggttcggat
gagtctcatgtggctgctgcacctccagatatatgctctcgaacagtgtggcctgatgaa
actatgggaccctttggacctcaagatcagaggttccagcttcctgggaacataggtttt
gattgtcacctcaatgggactgcttcacagaagaaaagcctggttcataaaactttgcct
gatgttctagcagaacctttatcaagtgaaagacatgagtttgtgatggcacaatatgtg
aatgaatttcagggtaatgatgcacctgttgaacaagaaattaacagtgcagaaacttac
tttgaaagtgccagagtagagtgtgcaatacagacatgtccagaattgctgcgaaaagat
tttgaatcactgtttccagaagtagctaatggcaaactaatgattctgactgtaacacaa
aaaactaagaatgatatgactgtttggagtgaagaagtagaaattgaaagagaagtgctc
ttagaaaagttcatcaatggtgctaaggaaatttgctatgctcttcgagctgagggttat
tgggctgactttattgacccatcatctggtttggcattttttggaccatatacaaacaac
actctttttgaaactgatgaacgctaccgacatttaggattctctgttgatgaccttgga
tgctgtaaagtgattcgtcatagtctctggggtacccatgtagttgtagggagtatcttc
actaatgcaacaccagacagccatattatgaagaaattaagtggaaattag

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