FAM136A

This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

Description

Family with sequence similarity 136 member A

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (70295975 - 70302090)

Ensembl ID

ENSG00000035141  (ver. 103.38)

Orthologs

Mouse Fam136a: ENSMUSG00000057497

UniProt

Q96C01

neXtProt

NX_Q96C01

Human splice variants
Mouse splice variants

Protein structure