Gene: AMACR

Alternate names for this Gene: AMACRD|CBAS4|P504S|RACE|RM

Gene Summary: This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.2

Description of this Gene: alpha-methylacyl-CoA racemase

Type of Gene: protein-coding

Gene: SLC45A2

Alternate names for this Gene: 1A1|AIM1|MATP|OCA4|SHEP5

Gene Summary: This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.2

Description of this Gene: solute carrier family 45 member 2

Type of Gene: protein-coding