Kdm5c [Search on AGR]
Rattus norvegicus Predicted to enable several functions, including histone H3K4 demethylase activity; identical protein binding activity; and zinc ion binding activity. Involved in response to toxic substance. Predicted to be located in cytosol and nucleoplasm. Biomarker of schizophrenia. Human ortholog(s) of this gene implicated in descending colon cancer and syndromic X-linked intellectual disability Claes-Jensen type. Orthologous to human KDM5C (lysine demethylase 5C); PARTICIPATES IN histone modification pathway; renal cell carcinoma pathway; INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; bisphenol A.
timm8a [Search on AGR]
Homo sapiens This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]