lt

Drosophila melanogaster

light (lt) encodes a cellular-protein trafficking protein that forms part of the homotypic fusion and vacuolar protein sorting (HOPS) and class C core vacuole/endosome tethering (CORVET) complexes. It is required for fusion of autophagosomes with lysosomes, endocytic down-regulation of Notch signaling, and eye pigment biogenesis.

mt-Nd2

Mus musculus

PHENOTYPE: A single point mutation specific to the ALR/Lt strain confers increased resistance to autoimmune diabetes. A conplastic strain generated with ALR nuclear DNA and NOD mtDNA exhibits increased mitochondrial ROS production relative to either parental strain, NOD.mt^ALR or C57BL/6 controls. [provided by MGI curators]

Kdm5c

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.

Vps11

Drosophila melanogaster

Vacuolar protein sorting 11 (Vps11) encodes a Class C Vps core subunit of HOPS, a heterohexameric tethering complex that consists of the products of car, dor, lt, Vps11, Vps16A and Vps39. HOPS tethers autophagosomes or late endosomes with lysosomes to facilitate fusion. The product of Vps11 roles include autophagosome-lysosome fusion, late endosome-lysosome fusion and biosynthetic trafficking to lysosomes.

Hma

Mus musculus

PHENOTYPE: This locus controls HPRT electrophoretic variation in erythrocytes. The dominant a allele is seen in A/J, DBA/2J and CBA/J; the b allele in C57BL/6J, SJL/J and LT/Sv. Strain distribution is the same as Hbb alleles d and s, suggesting HPRT mobility variation may be an effect of HBB chain difference. [provided by MGI curators]

timm8a

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]