AHSP
alpha hemoglobin stabilizing protein
Summary
This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4296276 | 16:31,539,430 | G/A | intron variant | — |
| rs2544912430 | 16:31,539,521 | C/T | — | likely benign |
| rs146072049 | 16:31,539,656 | A/T | intron variant | — |
| rs555330651 | 16:31,539,797 | G/C | — | uncertain significance |
| rs766420633 | 16:31,539,839 | A/G | — | uncertain significance |
| rs138933333 | 16:31,539,841 | C/T | — | likely benign |
| rs889130773 | 16:31,539,894 | A/G | — | uncertain significance |
| rs75782426 | 16:31,539,927 | A/T | — | uncertain significance |
| rs17677 | 16:31,539,934 | G/T | — | benign |
| rs2544913081 | 16:31,539,963 | A/T | — | uncertain significance |
| rs36018996 | 16:31,540,001 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.