USP45 gene

ubiquitin specific peptidase 45

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

From NCBI Gene:

The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]

From UniProt:

May be involved in the maintenance of photoreceptor function.

From NCBI Gene:

  • LEBER CONGENITAL AMAUROSIS 19

From UniProt:

Leber congenital amaurosis 19 (LCA19): A form of Leber congenital amaurosis, a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones. [MIM:618513]

Cytogenetic Location: 6q16.2, which is the long (q) arm of chromosome 6 at position 16.2

Molecular Location: base pairs 99,432,306 to 99,515,770 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 6q16.2, which is the long (q) arm of chromosome 6 at position 16.2