FAM23A is a 351 amino acid multi-pass membrane protein that is encoded by a gene that maps to human chromosome 10, which 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.
Subcellular Location:
Membrane.
Similarity:
Belongs to the TMEM236 family.
SWISS:
Q5W0B7
Gene ID:
653567
Database links:
Entrez Gene: 653567 Human
SwissProt: Q5W0B7 Human
Unigene: 564139 Human
Unigene: 733272 Human
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