TULP1


Description

The TULP1 (TUB like protein 1) is a protein-coding gene located on chromosome 6.

TULP1 is a protein encoded by the TULP1 gene. It belongs to a family of tubby-like genes that encode proteins of unknown function, found in plants, vertebrates, and invertebrates. TULP1 is a candidate gene for retinitis pigmentosa-14 (RP). Mutations in TULP1 are a rare cause of recessive RP, highlighting its critical role in photoreceptor cell function.

TULP1 is essential for the proper formation of connections between photoreceptor cells and other neurons. It also plays a crucial role in maintaining the health and survival of photoreceptor cells. TULP1 interacts with proteins that make up the cytoskeleton, which provides structural support to cells, and may be involved in moving proteins within photoreceptor cells. TULP1 binds to various lipids, including those that are important for cell signaling. TULP1 contributes to the removal of dead retinal pigment epithelium (RPE) cells and macrophages, which are involved in immune defense.

TULP1 is also known as LCA15, RP14, TUBL1.

Associated Diseases


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