FRMD4A gene

FERM domain containing 4A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

From NCBI Gene:

  • Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia

From UniProt:

Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia (CCAFCA): An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. [MIM:616819]

Cytogenetic Location: 10p13, which is the short (p) arm of chromosome 10 at position 13

Molecular Location: base pairs 13,643,706 to 14,330,952 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p13, which is the short (p) arm of chromosome 10 at position 13
  • bA295P9.4
  • CCAFCA
  • FRMD4