ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene. [5] [6]
ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene. [5] [6]
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia [7] [8] and plays a role in cilia formation and in maintenance of cilia. [5]
Mutations in the ARL13B gene are associated with the Joubert syndrome. [6]
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
ADP-ribosylation factor GTPase-activating protein 1 is an enzyme that in humans is encoded by the ARFGAP1 gene. Two transcript variants encoding different isoforms have been found for this 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.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Golgin subfamily A member 4 is a protein that in humans is encoded by the GOLGA4 gene.
Uncoordinated-119 (Unc-119) is a protein that has been identified in C. elegans, humans, mice, zebrafish, rabbits, pig, calf, monkey, and protozoa. They have been classified in the GMP phophodiesterase, delta superfamily. Unc-119 proteins are categorized into their own family but are shown to be ancestrally related to PrBP and rhoGDI. It has been given many different names: Retinal Protein 4, HRG4, POC7 Centriolar Protein Homolog A, IMD13, POC7A, and RG4.
ADP-ribosylation factor 4 is a protein that in humans is encoded by the ARF4 gene.
ADP-ribosylation factor-like protein 3 is a protein that in humans is encoded by the ARL3 gene.
ADP-ribosylation factor-like protein 1 is a protein that in humans is encoded by the ARL1 gene.
Inversin is a protein that in humans is encoded by the INVS gene.
ADP-ribosylation factor-like protein 2 is a protein that in humans is encoded by the ARL2 gene.
ADP-ribosylation factor-like protein 6 is a protein that in humans is encoded by the ARL6 gene.
Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 is a protein that in humans is encoded by the ASAP2 gene.
ADP-ribosylation factor-related protein 1 is a protein that in humans is encoded by the ARFRP1 gene.
ADP-ribosylation factor-like protein 4D is a protein that in humans is encoded by the ARL4D gene.
ADP-ribosylation factor-like protein 8B is a protein that in humans is encoded by the ARL8B gene.
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
The Rho GTPase activating protein 31 is encoded in humans by the ARHGAP31 gene. It is a Cdc42/Rac1 GTPase regulator.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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