KLHL7

kelch like family member 7

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

From NCBI Gene:

This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]

From UniProt:

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 42

From UniProt:

Retinitis pigmentosa 42 (RP42): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:612943]

Cytogenetic Location: 7p15.3, which is the short (p) arm of chromosome 7 at position 15.3

Molecular Location: base pairs 23,105,734 to 23,175,421 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p15.3, which is the short (p) arm of chromosome 7 at position 15.3
  • CISS3
  • KLHL6
  • SBBI26