LCA5

LCA5, lebercilin

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

From NCBI Gene:

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

From UniProt:

Might be involved in minus end-directed microtubule transport.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Leber congenital amaurosis 5

From UniProt:

Leber congenital amaurosis 5 (LCA5): 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. [MIM:604537]

Cytogenetic Location: 6q14.1, which is the long (q) arm of chromosome 6 at position 14.1

Molecular Location: base pairs 79,484,991 to 79,537,430 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q14.1, which is the long (q) arm of chromosome 6 at position 14.1
  • C6orf152