male fertility factor kl3 (kl-3) encodes a dynein heavy chain that is a component of a microtubule motor complex. This motor activity is essential only for spermatogenesis. Lack of kl-3 results in loss of the axonemal out dynein arms in the spermatid tail.
PHENOTYPE: Mice homozygous for an ENU induced allele that segregates with Kl<sup>m1Btlr</sup> exhibit short tibia, femur, and pelvis. [provided by MGI curators]
Predicted to enable beta-glucosidase activity. Predicted to be involved in carbohydrate metabolic process. Expressed in hypodermis and intestine. Used to study kidney disease. Human ortholog(s) of this gene implicated in several diseases, including congenital lactase deficiency; end stage renal disease; and intracranial embolism. Is an ortholog of human GBA3 (glucosylceramidase beta 3 (gene/pseudogene)) and LCTL (lactase like).
Predicted to enable beta-glucosidase activity. Predicted to be involved in carbohydrate metabolic process. Expressed in excretory canal; excretory cell; and intestine. Used to study kidney disease. Human ortholog(s) of this gene implicated in several diseases, including end stage renal disease; intracranial embolism; and spondylosis. Is an ortholog of human GBA3 (glucosylceramidase beta 3 (gene/pseudogene)) and LCTL (lactase like).
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
Predicted to enable fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Involved in several processes, including norepinephrine biosynthetic process; response to angiotensin; and response to vitamin D. Predicted to be located in apical plasma membrane and extracellular region. Used to study familial hyperlipidemia; hypertension; and kidney failure. Biomarker of chronic kidney disease (multiple); hypertension; retinitis pigmentosa; secondary hyperparathyroidism; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in coronary artery disease; intracranial embolism; and spondylosis. Orthologous to human KL (klotho); PARTICIPATES IN fibroblast growth factor signaling pathway; pentose and glucuronate interconversion pathway; starch and sucrose metabolic pathway; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; ammonium chloride.
Enables microtubule binding activity and syndecan binding activity. Involved in several processes, including Schwann cell differentiation; cellular response to dexamethasone stimulus; and regulation of modification of postsynaptic structure. Located in several cellular components, including axon; dendrite; and nucleus. Part of protein-containing complex. Is active in glutamatergic synapse. Biomarker of sciatic neuropathy and transient cerebral ischemia. Human ortholog(s) of this gene implicated in several diseases, including Watson syndrome; autistic disorder; hematologic cancer (multiple); neurofibromatosis 1 (multiple); and peripheral nervous system neoplasm (multiple). Orthologous to human NF1 (neurofibromin 1); PARTICIPATES IN forkhead class A signaling pathway; syndecan signaling pathway; mitogen activated protein kinase signaling pathway; INTERACTS WITH 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran.