SMPX gene

small muscle protein, X-linked

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

From NCBI Gene:

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

From UniProt:

Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.

Covered on Genetics Home Reference:

From UniProt:

Deafness, X-linked, 4 (DFNX4): A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. [MIM:300066]

Cytogenetic Location: Xp22.1, which is the short (p) arm of the X chromosome at position 22.1

Molecular Location: base pairs 21,705,972 to 21,758,160 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.1, which is the short (p) arm of the X chromosome at position 22.1
  • DFN6
  • DFNX4