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Gene : ACMSD Homo sapiens

Name  ? aminocarboxymuconate semialdehyde decarboxylase Cytological Location  2q21.3
Brief Description  aminocarboxymuconate semialdehyde decarboxylase
description  The neuronal excitotoxin quinolinate is an intermediate in the de novo synthesis pathway of NAD from tryptophan, and has been implicated in the pathogenesis of several neurodegenerative disorders. Quinolinate is derived from alpha-amino-beta-carboxy-muconate-epsilon-semialdehyde (ACMS). ACMSD (ACMS decarboxylase; EC 4.1.1.45) can divert ACMS to a benign catabolite and thus prevent the accumulation of quinolinate from ACMS.[supplied by OMIM, Oct 2004]
  • synonyms:
  • uc002ttz.4,
  • NM_001307983,
  • AB071418,
  • HGNC:19288,
  • OTTHUMG00000131711,
  • ACMSD
  • identifiers:
  • 130013,
  • ENSG00000153086,
  • ACMSD

Genome feature

Region: gene ? Length: 64588  
Location: 2:134838319-134902906 Cyto location: 2q21.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

32 SN Ps

5 Cross References

15 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results