ABCD4 wt Allele

Preferred Label : ABCD4 wt Allele;

NCIt synonyms : PMP69; MAHCJ; ABC41; P79R; PXMP1L; EST352188; ATP-Binding Cassette, Subfamily D, Member 4 Gene; ATP-Binding Cassette, Sub-Family D (ALD), Member 4 Gene; P70R; ATP Binding Cassette Subfamily D Member 4 wt Allele;

NCIt definition : Human ABCD4 wild-type allele is located in the vicinity of 14q24.3 and is approximately 18 kb in length. This allele, which encodes lysosomal cobalamin transporter ABCD4 protein, is involved in the cellular localization of vitamin B12. Mutation of the gene is associated with methylmalonic aciduria and homocystinuria, cblJ type.;

NCI Metathesaurus CUI : CL1905125;

GenBank Accession Number : AF009746;

Details

Origin ID

C191879;

UMLS CUI

C5781206;

OMIM relation
- Atp-binding cassette, subfamily D, member 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q24.3 [NCIt concept]
gene_is_element_in_pathway
- ABC Transporter Pathway [NCIt concept]
- Peroxisome Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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