BTK wt Allele - CISMeF

Preferred Label : BTK wt Allele;

NCIt synonyms : AT; MGC126261; IMD1; PSCTK1; AGMX1; XLA; ATK; Bruton Agammaglobulinemia Tyrosine Kinase Gene; BPK; MGC126262; Bruton Tyrosine Kinase wt Allele;

NCIt definition : Human BTK wild-type allele is located within Xq21.33-q22 and is approximately 37 kb in length. This allele, which encodes tyrosine-protein kinase BTK protein, plays a role in the mediation of signal transduction during B-cell development. Mutation of the gene is associated with X-linked agammaglobulinemia type 1.;

NCIt note : An intronic mutation of the BTK gene may be associated with X-linked hypogammaglobulinemia and isolated growth hormone deficiency. (OMIM);

GenBank Accession Number : AK057105;

Details

Origin ID

C75014;

UMLS CUI

C2698304;

False automatic mappings
- Arterial tortuosity syndrome [ORDO Disease]
OMIM relation
- Bruton agammaglobulinemia tyrosine kinase [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_plays_role_in_process
- B-Cell Differentiation [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Signal Transduction [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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