background:
Chromosome 10 contains over 800 genes and 135 million nucleotides, making up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterized by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious. The KIAA1279 gene product has been provisionally designated KIAA1279 pending further characterization.
Function:
Required for organization of axonal microtubules, andaxonal outgrowth and maintenance during peripheral and centralnervous system development. Regulates mitochondrial transport bymodulating KIF1B motor activity.
Subunit:
Interacts with KIF1B.
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and brain. Not expressed in blood leukocytes.
DISEASE:
Defects in KIAA1279 are the cause of Goldberg-Shprintzenmegacolon syndrome (GOSHS) [MIM:60992]. GOSHS is characterized bymicrocephaly, mental retardation and facial dysmorphism, as well asphenotypes related to Hirschsprung disease syndrome.
Similarity:
Belongs to the KIF1-binding protein family.
Database links:
Entrez Gene: 100063227 Horse
Entrez Gene: 26128 Human
Entrez Gene: 7264 Mouse
Entrez Gene: 606294 Rat
Omim: 609367 Human
SwissProt: Q96EK5 Human
SwissProt: Q6ZPU9 Mouse
SwissProt: Q4G074 Rat
Unigene: 279580 Human
Unigene: 258955 Mouse
Unigene: 100975 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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