Gene: NSD3

Alternate names for this Gene: KMT3F|KMT3G|WHISTLE|WHSC1L1|pp14328

Gene Summary: This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.23

Description of this Gene: nuclear receptor binding SET domain protein 3

Type of Gene: protein-coding

Gene: DDHD2

Alternate names for this Gene: SAMWD1|SPG54|iPLA(1)gamma

Gene Summary: This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.23

Description of this Gene: DDHD domain containing 2

Type of Gene: protein-coding