SCYL1 wt Allele

Preferred Label : SCYL1 wt Allele;

NCIt synonyms : TRAP; CVAK90; NKTL; N-Terminal Kinase-Like Gene; SCY1-Like Gene; SCY1, S. cerevisiae, Homolog of Gene; SCY1-Like 1 (S. cerevisiae) Gene; SCAR21; SCY1 Like Pseudokinase 1 wt Allele; MGC78454; Likely Ortholog of Mouse N-Terminal Kinase-Like Protein Gene; Telomerase Transcriptional Element-Interacting Factor Gene; HT019; TEIF; SCY1-Like, Kinase-Like 1 Gene; P105; NTKL; GKLP; TAPK;

NCIt definition : Human SCYL1 wild-type allele is located in the vicinity of 11q13.1 and is approximately 14 kb in length. This allele, which encodes N-terminal kinase-like protein, is involved in regulation of retrograde protein traffic between the Golgi apparatus and the endoplasmic reticulum. One transcript may also be involved in transcriptional regulation. Mutation of the gene is associated with autosomal recessive spinocerebellar ataxia 21, which is also called cholestasis, acute liver failure, and neurodegeneration (CALFAN) syndrome.;

NCI Metathesaurus CUI : CL1905181;

GenBank Accession Number : AF225424;

Details

Origin ID

C191784;

UMLS CUI

C5780797;

Automatic exact mappings (from CISMeF team)
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome [ORDO Disease]
- Twin-reversed arterial perfusion sequence [ORDO Disease]
OMIM relation
- Scy1-like 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q13.1 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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