Gene: MARK4

Alternate names for this Gene: MARK4L|MARK4S|MARKL1|MARKL1L|PAR-1D

Gene Summary: This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: microtubule affinity regulating kinase 4

Type of Gene: protein-coding

Gene: BLOC1S3

Alternate names for this Gene: BLOS3|HPS8|RP

Gene Summary: This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.32

Description of this Gene: biogenesis of lysosomal organelles complex 1 subunit 3

Type of Gene: protein-coding