Entity Details

Primary name CH037_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96NL8
EntryNameCH037_HUMAN
FullNameProtein C8orf37
TaxID9606
Evidenceevidence at protein level
Length207
SequenceStatuscomplete
DateCreated2007-01-09
DateModified2021-06-02

Ontological Relatives

GenesCFAP418

GO terms

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GOName
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0008594 photoreceptor cell morphogenesis
GO:0030054 cell junction
GO:0097546 ciliary base

Subcellular Location

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Subcellular Location
Cytoplasm
Photoreceptor inner segment

Domains

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DomainNameCategoryType
IPR029239 C8orf37 proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
614500 OMIMCone-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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.
614500 OMIMCone-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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.
617406 OMIMBardet-Biedl syndrome 21 (BBS21)A form of Bardet-Biedl syndrome, 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions