FAM65B gene

family with sequence similarity 65 member B

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

From NCBI Gene:

This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]

From UniProt:

Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).

Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 104

From UniProt:

Deafness, autosomal recessive, 104 (DFNB104): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:616515]

Cytogenetic Location: 6p22.3-p21.32, which is the short (p) arm of chromosome 6 between positions 22.3 and 21.32

Molecular Location: base pairs 24,804,281 to 25,042,288 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p22.3-p21.32, which is the short (p) arm of chromosome 6 between positions 22.3 and 21.32
  • C6orf32
  • DFNB104
  • DIFF40
  • DIFF48
  • MYONAP
  • PL48