ASPH wt Allele

Preferred Label : ASPH wt Allele;

NCIt synonyms : CASQ2BP1; Aspartate Beta-Hydroxylase wt Allele; FDLAB; JCTN; Junctin Gene; Humbug Gene; Junctate Gene; HAAH; Cardiac Junctin Gene; AAH; BAH;

NCIt definition : Human ASPH wild-type allele is located in the vicinity of 8q12.3 and is approximately 214 kb in length. This allele, which encodes aspartyl/asparaginyl beta-hydroxylase, junctin-1, junctin-2 and junctate proteins, plays a role in amino acid hydroxylation and calcium ion sensing. Mutation of the gene is associated with facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB or Traboulsi syndrome).;

NCIt note : Aberrant high expression of the largest transcript, which encodes aspartyl/asparaginyl beta-hydroxylase, is associated with hepatocellular carcinoma and colangiocarcinoma. (OMIM); Expression of the ASPH gene is modulated by two promoters and the transcript undergoes extensive alternative splicing, which yields a set of proteins with distinct functional properties because they share varying amounts of overlap near their N-termini but vary in their C-terminal domains. (EntrezGene);

NCI Metathesaurus CUI : CL976719;

GenBank Accession Number : AF224468;

Origin ID

C163039;

UMLS CUI

C5235415;

Automatic exact mappings (from CISMeF team)
- Aspartate beta-hydroxylase [OMIM gene]
- Traboulsi syndrome [OMIM Phenotype]
- aspartate beta-hydroxylase [ORDO Gene]
- heme [MeSH Descriptor]
OMIM relation
- Aspartate beta-hydroxylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Hypoxia-Inducible Factor Pathway [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Post-Translational Modification [NCIt concept]

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