ADA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ADA2 , ADGF, IDGFL, PAN, SNEDS, CECR1, cat eye syndrome chromosome region, candidate 1, adenosine deaminase 2, VAIHS | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607575 HomoloGene: 81852 GeneCards: ADA2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene. [3] [4]
This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene. [4]
Lysophosphatidic acid receptor 6, also known as LPA6, P2RY5 and GPR87, is a protein that in humans is encoded by the LPAR6 gene. LPA6 is a G protein-coupled receptor that binds the lipid signaling molecule lysophosphatidic acid (LPA).
The double-stranded RNA-specific adenosine deaminase enzyme family are encoded by the ADAR family genes. ADAR stands for adenosine deaminase acting on RNA. This article focuses on the ADAR proteins; This article details the evolutionary history, structure, function, mechanisms and importance of all proteins within this family.
Cytidine deaminase is an enzyme that in humans is encoded by the CDA gene.
The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.
Interleukin 17 receptor A, also known as IL17RA and CDw217, is a human gene.
Fermitin family homolog 1 is a protein that in humans is encoded by the FERMT1 gene.
Heat shock 70 kDa protein 6 is a protein that in humans is encoded by the HSPA6 gene.
Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
The renin receptor also known as ATPase H(+)-transporting lysosomal accessory protein 2, or the prorenin receptor, is a protein that in humans is encoded by the ATP6AP2 gene.
Protein CREG1 is a protein that in humans is encoded by the CREG1 gene.
Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.
Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.
Zinc finger protein 19 is a protein that in humans is encoded by the ZNF19 gene.
Tetraspanin-3 is a protein that in humans is encoded by the TSPAN3 gene.
Chondroitin sulfate synthase 1 is an enzyme that in humans is encoded by the CHSY1 gene.
WAP four-disulfide core domain protein 1 is a protein that in humans is encoded by the WFDC1 gene.
Glypican-6 is a protein that in humans is encoded by the GPC6 gene.
Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
DDB1 and CUL4 associated factor 17 is a protein that in humans is encoded buy the DCAF17 gene.