KXD1

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Description

The KXD1 (KxDL motif containing 1) is a protein-coding gene located on chromosome 19.

KXD1, as part of the BORC complex, is involved in the movement and positioning of lysosomes at the cell's edge. The BORC complex, attached to the lysosomes' inner surface, recruits ARL8B, linking lysosomes to kinesin motors that move along microtubules. This process is essential for proper lysosomal function. KXD1 may also participate in the formation of lysosome-related structures like melanosomes.

KXD1 is also known as BORCS4, C10orf50, C19orf50, KXDL, MST096, MSTP096.

Associated Diseases

• multiple sclerosis
• Parkinson disease
• lysosomal storage disease
• Alzheimer disease
• retinitis pigmentosa
• choroidal dystrophy, central areolar, 1
• nephronophthisis
• choroideremia
• Leber congenital amaurosis
• retinitis pigmentosa and erythrocytic microcytosis
• cleft lip-retinopathy syndrome
• X-linked retinal dysplasia
• Bardet-Biedl syndrome
• central areolar choroidal dystrophy
• retinal macular dystrophy type 2
• retinitis pigmentosa 32
• retinitis pigmentosa 76
• pigmented paravenous retinochoroidal atrophy
• homocarnosinosis