MAMLD1 wt Allele

Preferred Label : MAMLD1 wt Allele;

NCIt synonyms : Chromosome X Open Reading Frame 6 Gene; F18; CG1; Mastermind Like Domain Containing 1 wt Allele; HYSP2; CXorf6;

NCIt definition : Human MAMLD1 wild-type allele is located in the vicinity of Xq28 and is approximately 153 kb in length. This allele, which encodes mastermind-like domain-containing protein 1, plays a role in the regulation of gene expression. A chromosomal deletion that results in a fusion comprised of exon 4 of this gene fused to exon 3 of the MTMR1 gene is associated with X-linked hypospadias type 2.;

NCI Metathesaurus CUI : CL1778785;

GenBank Accession Number : U46023;

Détails

Origin ID

C186644;

UMLS CUI

C5575468;

OMIM relation
- Mastermind-like domain-containing protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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