DISEASES

Disease-gene associations mined from literature

Literature associating KXD1 and oculocutaneous albinism type IA

KXD1 [ENSP00000472836]

KxDL motif-containing protein 1; As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor . May be involved in the biogenesis of lysosome- related organelles such as melanosomes (By similarity). ; Belongs to the KXD1 family.

Synonyms:  KXD1,  KXD1p,  hKXD1,  A0A024R7M2,  M0QX74 ...

Linkouts:  STRING  Pharos  UniProt