Terminology Service for NFDI4Health

ASS1 wt Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C118541


Human ASS1 wild-type allele is located in the vicinity of 9q34.1 and is approximately 57 kb in length. This allele, which encodes argininosuccinate synthase protein, plays a role in amino acid metabolism and blood pressure. Mutation of the gene is associated with citrullinemia type 1. [ ]

Term info

Label

ASS1 wt Allele

Synonyms
  • ASS
  • ASS1 wt Allele
  • Argininosuccinate Synthase 1 wt Allele
  • CTLN1
  • RP11-618A20.2
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

ASS1 wt Allele

OMIM Number

603470

Preferred Name

ASS1 wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C3889972

code

C118541