2024年12月24日 · CA8 (Carbonic Anhydrase 8) is a Protein Coding gene. Diseases associated with CA8 include Spinocerebellar Ataxia, Autosomal Recessive 34 and Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1. Among its related pathways is PKC-gamma calcium signaling pathway in ataxia.

Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene. [5] [6] The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes. [7] A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" (CAMRQ3) is caused by ...

Reversion mutation of cDNA CA8-204 minigene construct produces a truncated functional peptide that regulates calcium release in vitro and produces profound analgesia in vivo.

具有神经缺陷的小鼠 lurcher 突变体的小脑中 CA8 基因转录的缺失表明这种非催化形式的重要作用。 该基因的突变与小脑性共济失调、智力低下和平衡失调综合征 3 (CMARQ3) 有关。

A mutation in the CA8 gene has been associated with ataxia, mild mental retardation and quadrupedal gait in humans and with lifelong gait disorder in mice, suggesting an important role for CARP VIII in the brain. However, the precise function of CARP VIII is still an enigma.

2025年2月8日 · Gene ID: 767, updated on 8-Feb-2025. The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide).

2018年4月24日 · These AAV8-V5-CA8 data provide a proof-of-concept for precision medicine through targeted gene therapy of NGF-responsive somatosensory neurons as a long-acting local analgesic able to...

The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form.

Chromosome 8: 61,099,906-61,193,971 reverse strand. GRCh37:CM000670.1. This gene has 4 transcripts (splice variants), 12 paralogues and is associated with 4 phenotypes. Show transcript table.

The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide).