Gene: TULP1
Alternate names for this Gene: LCA15|RP14|TUBL1
Gene Summary: This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.31
Description of this Gene: TUB like protein 1
Type of Gene: protein-coding
rs1327062642 in
TULP1 gene and
Abnormality of retinal pigmentation
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Amaurosis congenita of Leber, type 1
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Atrophic macular change
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Atrophoderma maculatum
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Congenital nystagmus
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Electroretinogram abnormal
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Intrauterine retardation
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs387906836 in
TULP1 gene and
LEBER CONGENITAL AMAUROSIS 15
PMID 17962469 2007 Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
PMID 15024725 2004 Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
rs1327062642 in
TULP1 gene and
Myopia
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Progressive night blindness
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs121909073 in
TULP1 gene and
Retinitis Pigmentosa 14
PMID 9660588 1998 Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.
PMID 19837063 2010 Identification of tubby and tubby-like protein 1 as eat-me signals by phage display.
PMID 15557452 2004 A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
PMID 17620573 2007 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
PMID 9462750 1998 Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
rs1327062642 in
TULP1 gene and
Severe visual impairment
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.
rs1327062642 in
TULP1 gene and
Small for gestational age (disorder)
PMID 29178942 2017 Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria.