MACF1 wt Allele

Preferred Label : MACF1 wt Allele;

NCIt synonyms : FLJ46776; FLJ45612; ACF7; MACF; KIAA1251; Microtubule Actin Crosslinking Factor 1 wt Allele; KIAA0465; LIS9; ABP620; OFC4;

NCIt definition : Human MACF1 wild-type allele is located in the vicinity of 1p34.3 and is approximately 406 kb in length. This allele, which encodes microtubule-actin cross-linking factor 1, isoforms 1/2/3/5 protein, is involved in crosslinking actin to other cytoskeletal proteins. Point mutations in this gene are associated with lissencephaly 9 with complex brainstem malformation. A translocation t(1;7)(p34;q34) involving this gene and the BRAF gene may be associated with thyroid adenocarcinomas and astrocytomas.;

NCI Metathesaurus CUI : CL1405608;

GenBank Accession Number : AB007934;

Details

Origin ID

C171306;

UMLS CUI

C5401324;

Automatic exact mappings (from CISMeF team)
- Microtubule-actin cross-linking factor 1 [OMIM gene]
- Orofacial cleft 4 [OMIM Phenotype]
- lissencephaly 9 with complex brainstem malformation [DO Concept]
- microtubule actin crosslinking factor 1 [ORDO Gene]
OMIM relation
- Microtubule-actin cross-linking factor 1 [OMIM gene]
See also inter- (CISMeF)
- Lissencephaly 9 with complex brainstem malformation [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34.3 [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Microtubule Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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