Gene: TCF25
Alternate names for this Gene: FKSG26|Hulp1|NULP1|PRO2620|hKIAA1049
Gene Summary: TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1091791.1, SRR1660809.32437.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000263346.13/ ENSP00000263346.8 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Gene is located in Chromosome: 16
Location in Chromosome : 16q24.3
Description of this Gene: transcription factor 25
Type of Gene: protein-coding
Gene: MC1R
Alternate names for this Gene: CMM5|MSH-R|SHEP2
Gene Summary: This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation.
Gene is located in Chromosome: 16
Location in Chromosome : 16q24.3
Description of this Gene: melanocortin 1 receptor
Type of Gene: protein-coding