NHS | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | NHS , CTRCT40, CXN, SCML1, NHS actin remodeling regulator | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 300457 MGI: 2684894 HomoloGene: 18866 GeneCards: NHS | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene. [5]
This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. An alternative splice variant has been described, but its full-length nature has not been determined. [5]
Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.
Usherin is a protein that in humans is encoded by the USH2A gene.
Wolframin is a protein that in humans is encoded by the WFS1 gene.
Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.
Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.
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.
Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
X-linked interleukin-1 receptor accessory protein-like 1 is a protein that in humans is encoded by the IL1RAPL1 gene. IL1RAPL1 is composed of 11 exons, about 1.37 Mb total.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene.
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
Retinoic acid-induced protein 2 is a protein that in humans is encoded by the RAI2 gene.
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
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.
Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.