ABCA12 wt Allele

Preferred Label : ABCA12 wt Allele;

NCIt synonyms : Ichthyosis Congenita II, Lamellar Ichthyosis B Gene; LI2; ABC12; ARCI4A; ATP-Binding Cassette, Sub-Family A (ABC1), Member 12 Gene; ARCI4B; ATP Binding Cassette Subfamily A Member 12 wt Allele; ICR2B; DKFZP434G232; ATP-Binding Cassette, Subfamily A, Member 12 Gene;

NCIt definition : Human ABCA12 wild-type allele is located in the vicinity of 2q35 and is approximately 207 kb in length. This allele, which encodes glucosylceramide transporter ABCA12 protein, plays a role in both the membrane localization of glucosylceramide and other lipids in lamellar granules and in cholesterol transport. Mutation of the gene is associated with autosomal recessive congenital ichthyosis (ARCI) types 4A and 4B (harlequin).;

NCI Metathesaurus CUI : CL1905165;

GenBank Accession Number : AF418105;

Details

Origin ID

C191812;

UMLS CUI

C5780779;

OMIM relation
- Atp-binding cassette, subfamily a, member 12 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q35 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Keratinocyte Differentiation [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients