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EntrezGene:27249

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Symbol:MMADHC
Description:methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyms:C2orf25, CL25022, cblD
Species:Human (Homo sapiens)
Xrefs:
EntrezGene:27249
HGNC:25221
MIM:611935
Ensembl:ENSG00000168288
HPRD:10781
Vega:OTTHUMG00000155558
Associated motifs:NA
Transcripton Factor?: No

TSS regions




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TSS expression






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ENCODE TF ChIP-seq peak enrichment analysis Analyst: Erik Arner <br>Summary: For each TF and each co-expression cluster, the number of promoters with ENCODE TF ChIP signal was compared with the rest of promoters from the robust set using Fisher's exact test. Clusters with significant ChIP enrichment (q <= 0.05) after Benjamini-Hochberg correction were retained. <br><br><br>link to source dataset.<br>data


No analysis results for this cluster

Details<b>Summary:</b>It includes sequences from the international sequence collaboration, Swiss-Prot, and RefSeq. The RefSeq subset of this file is also available as gene2refseq.<br><br>links to source dataset.<br>human <br>mouse


GeneID:27249
LocusTag:HSPC161
chromosome:2
map location:2q23.2
type of gene:protein-coding
Symbol from
nomenclature authority:
MMADHC
Full name from
nomenclature authority:
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Nomenclature status:O
Other designations:methylmalonic aciduria and homocystinuria type D protein, mitochondrial, protein C2orf25, mitochondrial, methylmalonic aciduria and homocystinuria type D protein, mitochondrial;;protein C2orf25, mitochondrial
Modification date:22.12.2011