SMPX

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]

Description

Small muscle protein X-linked

Tissue specificity

Group enriched (heart muscle, skeletal muscle, tongue)

Subcell location

Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (21705978 - 21758116)

Ensembl ID

ENSG00000091482  (ver. 103.38)

Orthologs

Mouse Smpx: ENSMUSG00000041476

UniProt

Q9UHP9

neXtProt

NX_Q9UHP9

Human splice variants
Mouse splice variants

Protein structure