FAHD1 is a 224 amino acid protein belonging to the FAH family. Present as a homodimer, FAHD1 is thought to have hydrolase activity and uses magnesium and calcium as cofactors. The gene that encodes FAHD1 maps to human chromosome 16, which encodes over 900 genes in approximately 90 million base pairs, making up nearly 3% of human cellular DNA. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier.
Function:
Probable mitochondrial acylpyruvase which is able to hydrolyze acetylpyruvate and fumarylpyruvate in vitro.
Subunit:
Homodimer.
Subcellular Location:
Mitochondrion. Cytoplasm, cytosol.
Tissue Specificity:
Ubiquitous (at protein level).
Similarity:
Belongs to the FAH family.
SWISS:
Q6P587
Gene ID:
81889
Database links:
Entrez Gene: 509273 Cow
Entrez Gene: 81889 Human
Entrez Gene: 68636 Mouse
Entrez Gene: 100171851 Orangutan
Entrez Gene: 30596 Rat
Omim: 61664 Human
SwissProt: Q2HJ98 Cow
SwissProt: Q6P587 Human
SwissProt: Q8R0F8 Mouse
SwissProt: Q5RDW0 Orangutan
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