Human Genes

The official name of OTOF gene is “otoferlin". The OTOF gene provides instructions for making a protein called otoferlin. This protein...

The official name of NR4A2 gene is “nuclear receptor subfamily 4, group A, member 2". The MSH6 gene provides instructions for...

The official name of MSH2 gene is “mutS homolog 6 (E. coli)". The MSH6 gene provides instructions for making a protein...

The official name of MSH2 gene is “mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)". TThe MSH2 gene provides...

Definition: ASPM is a human gene whose defective forms are associated with autosomal recessive primary microcephaly."ASPM" is an acronym for "Abnormal...

Defintion: ACADM (acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain) is a gene that provides instructions for making an enzyme called...

The official name of HADHB gene is hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme. The HADHB gene provides instructions for making part of an enzyme...

Definition Carnitine palmitoyltransferase II, also known as CPT2, is a human gene also known has CPTASE Chromosome: Chromosome 1 Position:1p32 Size...

Definition: Collagen, type XI, alpha 1, also known as COL11A1, is a human gene. Chromosome:Chromosome 1 Location: 1p21 Size of gene:...

The official name of HADHA gene is hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit. The HADHA gene...

The official name of COL5A2 gene is collagen, type V, alpha 2. The COL5A2 gene provides instructions for making a component...

The official name of COL4A3 gene is collagen, type IV, alpha 3 (Goodpasture antigen). COL4A3 gene provides instructions for making one...

The official name of COL3A1 gene is collagen, type III, alpha 1. COL3A1 gene provides instructions for making a component of...

The official name of BMPR2 gene is bone morphogenetic protein receptor, type II (serine/threonine kinase).The BMPR2 gene provides instructions for making...

The official name of ALS2 gene is amyotrophic lateral sclerosis 2 (juvenile)..The ALS2 gene provides instructions for making a protein called...

The official name of ALMS1 gene is Alstrom syndrome 1.The ALMS1 gene provides instructions for making a protein whose function is...

The official name of AGXT gene is alanine-glyoxylate aminotransferase.The AGXT gene provides instructions for making a liver enzyme called alanine-glyoxylate aminotransferase...

The official name of ABCG8 is ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2).The ABCG8 gene provides instructions for making...

The official name of ABCG5 is ATP-binding cassette, sub-family G (WHITE), member 5.The ABCG5 gene provides instructions for making a sterolin1...

The official name of ABCA12 is ATP-binding cassette, sub-family A (ABC1), member 12.The USH2A gene provides instructions for making a protein...

The official name of USH2A gene is Usher syndrome 2A (autosomal recessive, mild)..The USH2A gene provides instructions for making anan enzyme...

The official name of UROD gene is uroporphyrinogen decarboxylase.The UROD gene provides instructions for making anan enzyme called uroporphyrinogen decarboxylase. Uroporphyrinogen...

The official name of TSHB gene is thyroid stimulating hormone, beta.The TSHB gene provides instructions for making a protein subunit of...

The official name of SDHB gene is succinate dehydrogenase complex, subunit B, iron sulfur (Ip),The SDHB  gene provides instructions for making...

The official name of PSEN2 gene is presenilin 2 (Alzheimer disease 4),The PSEN2 gene provides instructions for making a protein called...

 PPOX Gene provides informations to produce an enzyme called protoporphyrinogen oxidase ,This enzyme is responsible for the seventh step in the...

The official name PLOD1 gene procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1,the Gene provides informations to produce an enzyme called lysyl hydroxylase 1,Lysyl...

The official name of this gene is PTEN induced putative kinase 1,Gene provides informations to produce serine/threonine protein kinase that localizes...

The official name of this gene is “Parkinson disease (autosomal recessive, early onset) 7.”PARK7 Gene provides informations to produce DJ-1 protein...

Definition: mutY homolog (E. coli) Official Symbol:MUTYH Chromosome:1 Location : 1p34.3-p32.1 Gene Size: 11229 bp complement(45567501..45578729) No Exons:16 Description: MUTYH gene...

Definition:5-methyltetrahydrofolate-homocysteine methyltransferase Official Symbol:MTR  Chromosome:1 Gene Size: 105245 bp   235025341..235130585 No Exons:33  Location : 1q43 Description: MTR gene provides information for...

Definition:5,10-methylenetetrahydrofolate reductase (NADPH)Official Symbol:MTHFR Chromosome:1 Gene Size: 20329 bp complement(11768374..11788702)No Exons:12Location : 1p36.3Description:MTHFR gene codes for an enzyme called methylenetetrahydrofolate reductase,which...

Definition:Myelin protein zeroOfficial Symbol:MPZChromosome:1Gene Size: 5227 bp (159541151..159546377)No Exons:6Location : 1q23.3Description:MPZ gene codes for making a protein called myelin protein zero,...

Definition:Mitofusin 2Official Symbol:MFN2 Chromosome:1Gene Size: 33197 bp (11962956..11996152)No Exons:19 Location : 1p36.22Description:This gene codes for a protein called mitofusin 2,This protein...

Definition:Lamin A/COfficial Symbol:LMNAChromosome:1Location : 1q21.2-q21.3Gene Size: 25418 bp (154351085..154376502)No Exons:12Description:The LMNA gene provides instructions for making several slightly different proteins called...

Definition:Kinesin family member 1BOfficial Symbol:KIF1B Chromosome:1 Location : 1p36.2Gene Size: 170825 bp (REGION: 10193418..10364242)No Exons:47Description:This gene encodes a motor protein that transports mitochondria...

Definition: Potassium voltage-gated channel, KQT-like subfamily, member 4Official Symbol:KCNQ4 Chromosome:1 Location : 1p34Gene Size: 54677 bp (41022271..41076947)No Exons:14Description:The protein encoded by this gene...

Definition:Interferon regulatory factor 6Official Symbol:IRF6 Chromosome:1 Location : 1q32.3-q41Gene Size: 18218 bp complement(208027885..208046102)No Exons: 9Description:This gene encodes a member of the interferon regulatory...

Defintion:Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)Official Symbol:RNASEL Chromosome:1 Location : 1q25Gene Size: 13337 BP complement(155654005..155667341)No Exons: 6Description:This gene encodes a component of the interferon-regulated 2-5A...