HSH2D
Description
The HSH2D (hematopoietic SH2 domain containing) is a protein-coding gene located on chromosome 19.
The HSH2D gene, located on chromosome 19 at 19p13.11, encodes the Hematopoietic SH2 Domain Containing protein. It is also known as Hematopoietic SH2 Protein (HSH2) or Adaptor in Lymphocytes of Unknown Function X (ALX). The gene produces two main isoforms, with isoform 1 being the longest, spanning seven exons and having a length of 2,403 bp. Isoform 2, with six exons, is 2,936 bp long. While isoform 2 has a longer mRNA sequence, it results in the production of the smaller isoform in the mature protein.
HSH2D is also known as ALX, HSH2.
Associated Diseases
- hyper-IgM syndrome type 3
- reticular dysgenesis
- BENTA disease
- severe combined immunodeficiency due to CARD11 deficiency
- autoimmune lymphoproliferative syndrome type 2B
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency, common variable, 7
- beta-thalassemia-X-linked thrombocytopenia syndrome
- Wiskott-Aldrich syndrome
- immunodeficiency 18
