Mar 30, 2025 · Complete information for RP1 gene (Protein Coding), RP1 Axonemal Microtubule Associated, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

Mar 30, 2025 · RP1L1 (RP1 Like 1) is a Protein Coding gene. Diseases associated with RP1L1 include Occult Macular Dystrophy and Retinitis Pigmentosa 88. Among its related pathways are 8p23.1 copy number variation syndrome and Ciliopathies. An …

Mar 30, 2025 · This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision.

Mar 30, 2025 · WHR1 (Winged Helix Repair Factor 1) is a Protein Coding gene. Diseases associated with WHR1 include Retinitis Pigmentosa 4 and Melanoma . Among its related pathways are Endometrial cancer and Sweet Taste Signaling .

Mar 30, 2025 · LRP1 (LDL Receptor Related Protein 1) is a Protein Coding gene. Diseases associated with LRP1 include Developmental Dysplasia Of The Hip 3 and Keratosis Pilaris Atrophicans . Among its related pathways are Visual phototransduction and Statin inhibition of cholesterol production .

Mar 30, 2025 · Complete information for XKR4 gene (Protein Coding), XK Related 4, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium

Mar 30, 2025 · IGFBP7 (Insulin Like Growth Factor Binding Protein 7) is a Protein Coding gene. Diseases associated with IGFBP7 include Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis and Diabetic Angiopathy.

Mar 30, 2025 · The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA.

Mar 30, 2025 · TYRP1 (Tyrosinase Related Protein 1) is a Protein Coding gene. Diseases associated with TYRP1 include Albinism, Oculocutaneous, Type Iii and Skin/Hair/Eye Pigmentation, Variation In, 11. Among its related pathways are MITF-M-dependent gene expression and Nervous system development.

Mar 30, 2025 · CALHM6 (Calcium Homeostasis Modulator Family Member 6) is a Protein Coding gene. Diseases associated with CALHM6 include Nephrotic Syndrome. An important paralog of this gene is CALHM5.