C8orf37 gene

chromosome 8 open reading frame 37

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

From NCBI Gene:

This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cone-rod dystrophy 16
  • Retinitis pigmentosa

From UniProt:

Defects in C8orf37 may be the cause of Bardet Biedl syndrome (BBS21). BBS21 is a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Retinitis pigmentosa 64 (RP64): 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:614500]

Cone-rod dystrophy 16 (CORD16): An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. [MIM:614500]

Cytogenetic Location: 8q22.1, which is the long (q) arm of chromosome 8 at position 22.1

Molecular Location: base pairs 95,244,913 to 95,270,602 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q22.1, which is the long (q) arm of chromosome 8 at position 22.1
  • BBS21
  • CORD16
  • RP64
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