Loss-of-function mutations in DBT cause MSUD2

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Results for "Loss-of-function mutations in DBT cause MSUD2": 8 genes

Name
DBT Gene dihydrolipoamide branched chain transacylase E2 The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
SACM1L Gene SAC1 suppressor of actin mutations* 1-like (yeast)* This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]
MCDR4 Gene macular dystrophy, retinal, 4 (North Carolina type with progressive sensorineural hearing loss)
CIHL Gene hearing loss, cisplatin-induced, susceptibility to
LOH19CR1 Gene loss of heterozygosity, 19, chromosomal region 1
LOH12CR1 Gene loss of heterozygosity, 12, chromosomal region 1 Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane; plasma membrane; and plus-end kinesin complex. Part of BORC complex. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Mar 2025]
LOH12CR2 Gene loss of heterozygosity, 12, chromosomal region 2 (non-protein coding)
LOH1CR1 Gene loss of heterozygosity, 1, chromosomal region 1