HMSD - histocompatibility minor serpin domain containing Gene

Homo sapiens

Also known as ACC6; ACC-6; HSMD-v; C18orf53

Gene ID: 284293 | Gene type: protein coding

About HMSD

Cytogenetic location: 18q22.1 Genomic coordinates (GRCh38): 18:63,949,301-63,969,648 (from NCBI)

This gene has 4 transcripts (splice variants), 102 orthologues and 36 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]

HMSD Products(1)

mRNA	Protein	Name
NM_001123366.2	NP_001116838.1	serpin-like protein HMSD

HMSD Protein Structure

Serpin

0
100
139 a.a.

Protein Preferred Names

Protein Names

serpin-like protein HMSD

minor histocompatibility protein HMSD

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 16

PCH16	Pontocerebellar Hypoplasia Type 16
Pontocerebellar Hypoplasia 16	Doid:0112333

Bubonic Plague

Black Death	Plague, Bubonic
Plague, Septicemic	Pestis Bubonica

Pneumonic Plague

Primary Pneumonic Plague	Secondary Pneumonic Plague
Plague	Plague, Pneumonic
Plague Pneumonia	Plague Of Lung
Pulmonary Plague	Pneumonia Due To Yersinia Pestis

Septicemic Plague

Plague, Septicemic

Plague

Yersiniosis	Yersinia Infections
Infection By Yersinia Pestis	Pasteurella Pestis Infection
Pestilential Fever	Yersinia Pestis Infection

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii	OI3
Oi, Type Iii	Osteogenesis Imperfecta Type 3
Oi Type Iii	Oi Type 3
Progressive Deforming Osteogenesis Imperfecta	Severe Osteogenesis Imperfecta
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae	Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae	Progressively Deforming Oi
Osteogenesis Imperfecta 3	Oi-Iii
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae