The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
ADGRV1, also known as G protein-coupled receptor 98 (GPR98) or Very Large G-protein coupled receptor 1 (VLGR1), is a protein that in humans is encoded by the GPR98 gene. Several alternatively spliced transcripts have been described.
Guanine nucleotide-binding protein G(i), alpha-1 subunit is a protein that in humans is encoded by the GNAI1 gene.
Probable G-protein coupled receptor 171 is a protein that in humans is encoded by the GPR171 gene.
Integral membrane protein GPR155, also known as G protein-coupled receptor 155, is a protein that in humans is encoded by the GPR155 gene. Mutations in this gene may be associated with autism.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Aprataxin is a protein that in humans is encoded by the APTX gene.
Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.
Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.
Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.
H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.
Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Transducin (beta)-like 1X-linked, also known as TBL1X, is a protein which in humans is encoded by the TBL1X gene.
Acetylcholine receptor subunit beta is a protein that in humans is encoded by the CHRNB1 gene.
Cytochrome c-type heme lyase is an enzyme that in humans is encoded by the HCCS gene on chromosome X.
Ocular albinism type 1(OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is usually an X-linked disorder, it occurs mostly in males, while females are carriers unless they are homozygous. About 60 missense and nonsense mutations, insertions, and deletions have been identified in Oa1. Mutations in OA1 have been linked to defective glycosylation and thus improper intracellular transportation.
Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 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.
Ocular albinism late onset sensorineural deafness (OASD) is a rare, X-linked recessive disease characterized by intense visual impairments, reduced retinal pigments, translucent pale-blue irises and moderately severe hearing loss from adolescence to middle-age. It is a subtype of Ocular Albinism (OA) that is linked to Ocular albinism type I (OA1). OA1 is the most common form of ocular albinism, affecting at least 1/60,000 males.
