ALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene. [5]
ALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene. [5]
This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintenance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014].
Alström syndrome (AS), also called Alström–Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome.
Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene.
Mitochondrial uncoupling protein 2 is a protein that in humans is encoded by the UCP2 gene.
Calpain-10 is a protein that in humans is encoded by the CAPN10 gene.
HNF1 homeobox B, also known as HNF1B or transcription factor 2 (TCF2), is a human gene.
Islet cell autoantigen 1 is a protein that in humans is encoded by the ICA1 gene.
Peroxisome proliferator-activated receptor gamma coactivator 1-beta is a protein that in humans is encoded by the PPARGC1B gene.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Transcription factor SOX-13 is a protein that in humans is encoded by the SOX13 gene.
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the PCNT gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) to ensure proper centrosome and mitotic spindle formation, and thus, uninterrupted cell cycle progression. This gene is implicated in many diseases and disorders, including congenital disorders such as microcephalic osteodysplastic primordial dwarfism type II (MOPDII) and Seckel syndrome.
Solute carrier family 2, facilitated glucose transporter member 10 is a protein that in humans is encoded by the SLC2A10 gene.
Centriolin is a protein that in humans is encoded by the CNTRL gene. It was previously known as CEP110.
Tubby protein homolog is a protein that in humans is encoded by the TUB gene.
Carbohydrate-responsive element-binding protein (ChREBP) also known as MLX-interacting protein-like (MLXIPL) is a protein that in humans is encoded by the MLXIPL gene. The protein name derives from the protein's interaction with carbohydrate response element sequences of DNA.
Glucose-6-phosphatase 2 is an enzyme that in humans is encoded by the G6PC2 gene.
Presenilins-associated rhomboid-like protein, mitochondrial also known as mitochondrial intramembrane cleaving protease PARL is an inner mitochondrial membrane protein that in humans is encoded by the PARL gene on chromosome 3. It is a member of the rhomboid family of intramembrane serine proteases. This protein is involved in signal transduction and apoptosis, as well as neurodegenerative diseases and type 2 diabetes.
Acyl-CoA dehydrogenase family, member 10 is a protein that in humans is encoded by the ACAD10 gene.
Glycerol-3-phosphate dehydrogenase 1 is a protein that in humans is encoded by the GPD1 gene.
PPARG coactivator 1 alpha is a protein that in humans is encoded by the PPARGC1A gene.
Glucokinase regulator is a protein that in humans is encoded by the GCKR gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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