Gene: HSD3B7

Alternate names for this Gene: CBAS1|PFIC4|SDR11E3

Gene Summary: This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Type of Gene: protein-coding

Gene: SETD1A

Alternate names for this Gene: EPEDD|KMT2F|NEDSID|Set1|Set1A

Gene Summary: The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: SET domain containing 1A, histone lysine methyltransferase

Type of Gene: protein-coding